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.