101
(79.5%)

Poland syndrome

Abnormality of the ulna Cleft lip Retinal hamartoma Short finger Short ribs

Autosomal dominant inheritance

Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.

102
(79.4%)

Cranioectodermal dysplasia

Epicanthus Everted lower lip vermilion Rhizomelia Short finger Short ribs

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

103
(79.4%)

Spondyloperipheral dysplasia-short ulna syndrome

Hypoplasia of the ulna Micromelia Pectus carinatum Short metacarpal

Autosomal dominant inheritance

Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.

104
(79.3%)

Ring chromosome 7 syndrome

Epicanthus Mandibular prognathia Short 5th finger Short philtrum

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).

105
(79.2%)

Phocomelia, Schinzel type

Aplasia of the ulna Cleft palate Hand oligodactyly Micrognathia

Autosomal recessive inheritance

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

106
(79.1%)

Hypoglossia-hypodactyly syndrome

Aplasia/Hypoplasia of fingers Cleft lip Micrognathia Short distal phalanx of finger Telecanthus

Autosomal dominant inheritance Sporadic

A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.

107
(79.1%)

Aminopterin/methotrexate embryofetopathy

Aplasia/Hypoplasia of the thumb Epicanthus Micrognathia Micromelia Non-midline cleft lip

A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.

108
(79.0%)

Ruvalcaba syndrome

Downslanted palpebral fissures Micromelia Short finger Short metacarpal Thin vermilion border

Autosomal dominant inheritance

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

109
(79.0%)

Smith-Lemli-Opitz syndrome

Aplasia/Hypoplasia of the radius Epicanthus Long philtrum Micrognathia

Autosomal recessive inheritance

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

110
(78.9%)

Saethre-Chotzen syndrome

Cleft palate Epicanthus Hypoplasia of the maxilla Proximal radio-ulnar synostosis Short finger

Autosomal dominant inheritance

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

111
(78.8%)

Oligodontia

Brachydactyly Broad thumb Long eyelashes Micrognathia Unilateral cleft lip

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

112
(78.7%)

Blomstrand lethal chondrodysplasia

Long philtrum Micrognathia Short metacarpal Telecanthus

Autosomal recessive inheritance

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

113
(78.6%)

Brachytelephalangy-dysmorphism-Kallmann syndrome

Short distal phalanx of finger Telecanthus Thin upper lip vermilion

Autosomal dominant inheritance

Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.

113
(78.6%)

Char syndrome

Downslanted palpebral fissures Short middle phalanx of the 5th finger Short philtrum

Autosomal dominant inheritance

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).

113
(78.6%)

Hypertrichotic osteochondrodysplasia, Cantu type

Epicanthus Long philtrum Short distal phalanx of finger

Autosomal dominant inheritance

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

113
(78.6%)

Distal 22q11.2 microdeletion syndrome

Blepharophimosis Short distal phalanx of finger Short palm Thin upper lip vermilion

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

117
(78.4%)

Ulnar hypoplasia-split foot syndrome

Hypoplasia of the ulna Split hand

X-linked recessive inheritance

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.

117
(78.4%)

Upper limb mesomelic dysplasia

Fibular aplasia Hypoplasia of the ulna Radial bowing

Autosomal dominant inheritance

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

117
(78.4%)

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Hypoplasia of the ulna Micromelia Strabismus

Autosomal dominant inheritance

A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.

120
(78.4%)

Acromegaly

Large hands Mandibular prognathia Palpebral edema Short 5th metacarpal Thick lower lip vermilion

An acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

121
(78.3%)

Hartsfield syndrome

Aplasia/Hypoplasia of the radius Downslanted palpebral fissures Non-midline cleft lip Retrognathia

Autosomal dominant inheritance

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

122
(78.3%)

Gollop-Wolfgang complex

Aplasia/Hypoplasia of the ulna Cleft lip Hand monodactyly

Autosomal dominant inheritance Autosomal recessive inheritance

Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.

123
(78.3%)

Short rib-polydactyly syndrome, Verma-Naumoff type

Cleft upper lip Epicanthus Micrognathia Micromelia Short palm

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

124
(78.3%)

Femoral-facial syndrome

Microretrognathia Radioulnar synostosis Short femur Thin upper lip vermilion Upslanted palpebral fissure

Sporadic

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.

125
(78.3%)

Trisomy 4p

Blepharophimosis Radial club hand Retrognathia Small hand Smooth philtrum

Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.

126
(78.2%)

Floating-Harbor syndrome

Bilateral cleft lip Brachydactyly Broad thumb Short clavicles Telecanthus

Autosomal dominant inheritance

A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

127
(78.2%)

Progeroid syndrome, Petty type

Epicanthus Everted lower lip vermilion Mandibular prognathia Short distal phalanx of finger

Autosomal dominant inheritance

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

128
(78.1%)

Apert syndrome

Aplasia/Hypoplasia of the thumb Broad thumb Downslanted palpebral fissures Mandibular prognathia Short upper lip

Autosomal dominant inheritance

A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.

129
(78.1%)

Otopalatodigital syndrome type 2

Cleft palate Downslanted palpebral fissures Micrognathia Micromelia Short thumb

X-linked dominant inheritance

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

130
(78.1%)

Ring chromosome 13 syndrome

Aplasia/Hypoplasia of the thumb Aplasia/hypoplasia involving bones of the hand Epicanthus Micrognathia Short philtrum

Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.

130
(78.1%)

Multiple congenital anomalies-hypotonia-seizures syndrome

Epicanthus Microretrognathia Proportionate shortening of all digits Thin upper lip vermilion

Autosomal recessive inheritance

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (incl. gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.

132
(78.1%)

Tetrasomy 9p

Epicanthus Median cleft lip and palate Micrognathia Small hand

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).

133
(78.0%)

Noonan syndrome

Brachydactyly Epicanthus Micrognathia Radioulnar synostosis Thick lower lip vermilion

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

134
(77.9%)

Microcephaly-cardiac defect-lung malsegmentation syndrome

Blepharophimosis Cleft palate Micrognathia Short distal phalanx of finger

Autosomal recessive inheritance

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.

134
(77.9%)

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Cleft palate Epicanthus Microretrognathia Short distal phalanx of finger

Autosomal dominant inheritance

Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.

136
(77.9%)

Acromegaloid facial appearance syndrome

Abnormal lip morphology Abnormality of the metacarpal bones Blepharophimosis Large hands Micrognathia

Autosomal dominant inheritance

A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.

137
(77.9%)

Otopalatodigital syndrome type 1

Cleft palate Downslanted palpebral fissures Hypoplastic frontal sinuses Short palm Short thumb

X-linked dominant inheritance

A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

138
(77.7%)

Baller-Gerold syndrome

Absent radius Cleft palate Epicanthus Hand oligodactyly Micrognathia

Autosomal recessive inheritance

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

139
(77.6%)

Acheiropodia

Abnormality of the metaphysis Absent hand Aplasia of the ulna Fibular aplasia

Autosomal recessive inheritance

An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.

140
(77.6%)

Mucolipidosis type II

Carpal bone hypoplasia Epicanthus Long philtrum Short long bone

Autosomal recessive inheritance

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

140
(77.6%)

Pitt-Hopkins syndrome

Short metatarsal Short philtrum Small hand Upslanted palpebral fissure

Autosomal dominant inheritance

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

142
(77.5%)

Fetal hydantoin syndrome

Epicanthus Everted lower lip vermilion Short distal phalanx of finger

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.

142
(77.5%)

Fountain syndrome

Epicanthus Short distal phalanx of finger Thick lower lip vermilion

Autosomal recessive inheritance

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.

144
(77.5%)

Peters plus syndrome

Brachydactyly Cleft upper lip Micrognathia Micromelia Telecanthus

Autosomal recessive inheritance

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

145
(77.5%)

Phenobarbital embryopathy

Aplasia/Hypoplasia of fingers Epicanthus Mandibular prognathia Unilateral cleft lip

A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.

146
(77.4%)

Hirschsprung disease

Blepharophimosis Cleft lip Micrognathia Short humerus

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

147
(77.3%)

Acrofacial dysostosis, Catania type

Downslanted palpebral fissures Microretrognathia Short palm Smooth philtrum

Autosomal dominant inheritance

A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.

147
(77.3%)

X-linked intellectual disability, Armfield type

Epicanthus Micrognathia Short philtrum Small hand

X-linked recessive inheritance

X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.

147
(77.3%)

Distal monosomy 6p

Epicanthus Micrognathia Short palm Smooth philtrum

Sporadic

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

147
(77.3%)

11q22.2q22.3 microdeletion syndrome

Epicanthus Micrognathia Small hand Thin upper lip vermilion

11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.

147
(77.3%)

Monosomy 18p

Epicanthus Micrognathia Short philtrum Small hand

Autosomal dominant inheritance Sporadic

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.

152
(77.2%)

Trisomy 18

Epicanthus Microretrognathia Non-midline cleft lip Overlapping fingers

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

153
(77.2%)

Williams syndrome

Adducted thumb Epicanthus Long philtrum Micrognathia Radioulnar synostosis

Autosomal dominant inheritance

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity).

154
(77.2%)

Epilepsy-telangiectasia syndrome

Conjunctival telangiectasia Long philtrum Short 5th finger

Autosomal recessive inheritance

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.

155
(77.1%)

C syndrome

Brachydactyly Dislocated radial head Epicanthus Micrognathia Smooth philtrum

Autosomal dominant inheritance Autosomal recessive inheritance

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

156
(77.0%)

Fryns syndrome

Median cleft lip Micrognathia Short distal phalanx of finger Wide mouth

Autosomal recessive inheritance

A rare multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

157
(76.9%)

Fetal alcohol syndrome

Epicanthus Micrognathia Non-midline cleft lip Radioulnar synostosis

Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).

158
(76.9%)

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

Bilateral cleft lip and palate Broad thumb Clinodactyly of the 5th finger Micrognathia Upslanted palpebral fissure

Autosomal recessive inheritance

Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.

159
(76.8%)

Oculomaxillofacial dysostosis

Abnormal eyelid morphology Abnormality of the humerus Brachydactyly Median cleft lip Micrognathia

Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.

160
(76.8%)

CHIME syndrome

Aplastic clavicle Epicanthus Short palm Short philtrum

Autosomal recessive inheritance

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

161
(76.8%)

Spondyloepiphyseal dysplasia, Cantu type

Blepharophimosis Brachydactyly Rhizo-meso-acromelic limb shortening Short long bone Thick upper lip vermilion

Autosomal dominant inheritance

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).

162
(76.8%)

Congenital diaphragmatic hernia

Absent radius Adactyly Cleft lip Ectropion Micromelia

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

163
(76.7%)

Mesomelia-synostoses syndrome

Brachydactyly Downslanted palpebral fissures Long philtrum Micrognathia Micromelia

Autosomal dominant inheritance

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

164
(76.7%)

Schizencephaly

Bilateral cleft lip Cryptophthalmos Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.

165
(76.7%)

Dubowitz syndrome

Aplasia/Hypoplasia of the thumb Broad thumb Epicanthus Micrognathia Submucous cleft hard palate

Autosomal recessive inheritance

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

166
(76.7%)

Ulnar-mammary syndrome

Aplasia of the ulna Hypodontia Short distal phalanx of finger

Autosomal dominant inheritance

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

167
(76.7%)

Myhre syndrome

Blepharophimosis Mandibular prognathia Short palm Unilateral cleft lip

Autosomal dominant inheritance

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

168
(76.6%)

Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

Absent thumb Epicanthus Hypoplasia of the maxilla Smooth philtrum

Autosomal dominant inheritance

169
(76.6%)

Acromicric dysplasia

Long eyelashes Long philtrum Short metacarpal Short palm

Autosomal dominant inheritance

A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

169
(76.6%)

Intellectual disability-sparse hair-brachydactyly syndrome

Broad distal phalanx of finger Downslanted palpebral fissures Short palm Smooth philtrum

Autosomal dominant inheritance Autosomal recessive inheritance

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

171
(76.6%)

Tibial aplasia-ectrodactyly syndrome

Aplasia/Hypoplasia of the ulna Fibular hypoplasia Overfolded helix

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

172
(76.6%)

AREDYLD syndrome

Brachydactyly Mandibular prognathia Smooth philtrum Upslanted palpebral fissure

Autosomal recessive inheritance

A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.

173
(76.5%)

Toriello-Lacassie-Droste syndrome

Epicanthus Eyelid coloboma Short palm

Autosomal dominant inheritance Autosomal recessive inheritance

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

174
(76.5%)

Orofaciodigital syndrome type 1

Brachydactyly Epicanthus Median cleft lip Micrognathia Short toe

X-linked dominant inheritance

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

175
(76.5%)

Anodontia

Adactyly Cleft lip Micrognathia Telecanthus

Autosomal recessive inheritance

An extreme developmental dental anomaly characterized by the complete absence of all teeth.

176
(76.5%)

Mosaic trisomy 1

Downslanted palpebral fissures Hand clenching Microretrognathia Short upper lip

176
(76.5%)

15q overgrowth syndrome

Downslanted palpebral fissures Large hands Microretrognathia Smooth philtrum

A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.

178
(76.5%)

XY type gonadal dysgenesis-associated anomalies syndrome

Biparietal narrowing Broad thumb Epicanthus Large hands Non-midline cleft lip

Autosomal recessive inheritance

Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.

179
(76.3%)

Acrootoocular syndrome

Anodontia Downslanted palpebral fissures Micrognathia Short finger Short metacarpal

Autosomal recessive inheritance

A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.

179
(76.3%)

Frontometaphyseal dysplasia

Downslanted palpebral fissures High palate Irregular metacarpals Micrognathia Short distal phalanx of the thumb

A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

181
(76.2%)

Distal monosomy 17q

Abnormality of the philtrum Aplasia/Hypoplasia of the thumb Micromelia Upslanted palpebral fissure

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.

182
(76.2%)

Aicardi syndrome

Cleft upper lip Missing ribs Small hand Sparse lateral eyebrow

X-linked dominant inheritance

A rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.

183
(76.1%)

2q32q33 microdeletion syndrome

Arachnodactyly Broad thumb Downslanted palpebral fissures Long philtrum Micrognathia

Autosomal dominant inheritance

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

183
(76.1%)

3p25.3 microdeletion syndrome

Broad thumb Epicanthus Micrognathia Tapered finger Thin upper lip vermilion

3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.

185
(76.1%)

Antley-Bixler syndrome

Downslanted palpebral fissures Long philtrum Proximal femoral focal deficiency Radioulnar synostosis

A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

186
(76.1%)

Tetrasomy 12p

Micromelia Short femur Telecanthus Thick upper lip vermilion

Somatic mosaicism

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

187
(76.0%)

Multiple osteochondromas

Abnormality of the dentition Hypoplasia of the ulna Micrognathia

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

188
(76.0%)

Crossed polysyndactyly

Abnormality of the philtrum Aplasia/Hypoplasia of the thumb Upslanted palpebral fissure

Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.

189
(75.9%)

Sheldon-Hall syndrome

Aplasia/Hypoplasia of the radius Epicanthus High palate Micrognathia Overlapping fingers

Autosomal dominant inheritance

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

190
(75.9%)

Wilson-Turner syndrome

Micrognathia Small hand Thick eyebrow Thin upper lip vermilion

X-linked recessive inheritance X-linked dominant inheritance

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

191
(75.9%)

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Downslanted palpebral fissures Long philtrum Retrognathia Short palm

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).

192
(75.8%)

Down syndrome

Brachydactyly Epicanthus Short femur Thick lower lip vermilion

Sporadic

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

193
(75.7%)

Urban-Rogers-Meyer syndrome

Abnormality of the philtrum Brachydactyly Epicanthus Micrognathia Short foot

Autosomal recessive inheritance

This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.

193
(75.7%)

Temtamy syndrome

Brachydactyly Long philtrum Micrognathia Short toe Telecanthus

Autosomal recessive inheritance

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

193
(75.7%)

Autosomal recessive faciodigitogenital syndrome

Brachydactyly Long philtrum Micrognathia Short foot Telecanthus

Autosomal recessive inheritance

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

193
(75.7%)

Tetrasomy 5p

Long philtrum Micrognathia Short hallux Upslanted palpebral fissure

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).

197
(75.7%)

Trisomy 12p

Epicanthus Everted lower lip vermilion Genu valgum Large hands Micrognathia

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.

198
(75.6%)

Kindler syndrome

Cheilitis Ectropion Short 4th metacarpal

Autosomal recessive inheritance

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

198
(75.6%)

2q37 microdeletion syndrome

Short foot Short metacarpal Short palm Thin vermilion border Upslanted palpebral fissure

Autosomal dominant inheritance

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

200
(75.4%)

4q21 microdeletion syndrome

Long eyelashes Micromelia Short foot Short palm Short philtrum

Sporadic

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.