101
(79.4%)

hydrolethalus syndrome 1

Median cleft lip Micrognathia Upper limb undergrowth

Autosomal recessive inheritance

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.

102
(79.4%)

oculodentodigital dysplasia

Cleft upper lip Epicanthus Short middle phalanx of the 5th finger

Autosomal dominant inheritance

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

103
(79.3%)

otopalatodigital syndrome type 1

Absent frontal sinuses Broad distal phalanx of the thumb Cleft palate Downslanted palpebral fissures Short distal phalanx of finger

X-linked dominant inheritance

Otopalatodigital syndrome type 1 (OPD1) 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.

104
(79.3%)

craniofacial dysplasia - osteopenia syndrome

Micrognathia Short 2nd finger Smooth philtrum Sparse lateral eyebrow

Autosomal recessive inheritance

105
(79.2%)

osteoglophonic dwarfism

Downslanted palpebral fissures Hypoplastic scapulae Long philtrum Short metatarsal Short palm

Autosomal dominant inheritance

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

105
(79.2%)

Desbuquois dysplasia 2

Epicanthus Long philtrum Short clavicles Short long bone Short metacarpal

Autosomal recessive inheritance

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.

105
(79.2%)

mucolipidosis type II

Carpal bone hypoplasia Epicanthus Hypoplastic scapulae 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.

108
(79.1%)

microcephalic osteodysplastic primordial dwarfism type II

Hypoplastic scapulae Microdontia Radial bowing Short middle phalanx of finger Upslanted palpebral fissure

Autosomal recessive inheritance

'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

109
(79.1%)

femoral-facial syndrome

Micrognathia Radioulnar synostosis Short humerus Thin upper lip vermilion Upslanted palpebral fissure

Sporadic

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

110
(79.0%)

Cenani-Lenz syndactyly syndrome

Downslanted palpebral fissures Hypoplasia of the radius Hypoplasia of the ulna Micrognathia

Autosomal recessive inheritance

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

111
(79.0%)

osteopathia striata with cranial sclerosis

Cleft upper lip Epicanthus Fibular aplasia Fibular hypoplasia Micrognathia

X-linked dominant inheritance

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

112
(79.0%)

autosomal recessive omodysplasia

Epicanthus Fibular hypoplasia Hypoplastic distal humeri Long philtrum Micrognathia

Autosomal recessive inheritance

Autosomal recessive form of omodysplasia.

112
(79.0%)

cerebrocostomandibular syndrome

Epicanthus Long philtrum Micrognathia Short humerus

Autosomal dominant inheritance

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

114
(78.9%)

Bartsocas-Papas syndrome

Absent eyelashes Absent thumb Cleft upper lip Micrognathia

Autosomal recessive inheritance

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

115
(78.9%)

focal dermal hypoplasia

Cleft palate Cleft upper lip Short finger Short metatarsal Short ribs

X-linked dominant inheritance

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

116
(78.8%)

3M syndrome 1

Long philtrum Short 5th finger Short ribs Thick eyebrow

Autosomal recessive inheritance

Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.

117
(78.8%)

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Downslanted palpebral fissures Rhizomelia Short distal phalanx of finger Thin upper lip vermilion

Autosomal dominant inheritance

118
(78.8%)

orofaciodigital syndrome type 6

Brachydactyly Central Y-shaped metacarpal Cleft upper lip Epicanthus Micrognathia

Autosomal recessive inheritance

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

119
(78.7%)

ulnar agenesis and endocardial fibroelastosis

Aplasia of the ulna Hand oligodactyly

Autosomal recessive inheritance

119
(78.7%)

Gollop-Wolfgang complex

Aplasia of the ulna Hand monodactyly Split hand

Autosomal recessive inheritance

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

119
(78.7%)

split-hand/foot malformation with long bone deficiency 1

Aplasia/Hypoplasia of the ulna Cupped ear Hand monodactyly

Autosomal dominant inheritance

119
(78.7%)

Fuhrmann syndrome

Amenorrhea Aplasia/Hypoplasia of the ulna Hand oligodactyly

Autosomal recessive inheritance

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.

123
(78.6%)

microbrachycephaly-ptosis-cleft lip syndrome

Cleft upper lip Eyelid coloboma Mandibular prognathia Palmoplantar cutis laxa

Autosomal recessive inheritance

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

124
(78.6%)

ulnar-mammary syndrome

Hypodontia Hypoplasia of the radius Hypoplasia of the ulna Hypoplastic scapulae Sparse lateral eyebrow

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.

125
(78.6%)

brachytelephalangy-dysmorphism-Kallmann syndrome

Shortening of all distal phalanges of the fingers 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). 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.

125
(78.6%)

Cooks syndrome

Downslanted palpebral fissures Short philtrum Shortening of all distal phalanges of the fingers Shortening of all distal phalanges of the toes

Autosomal dominant inheritance

Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.

125
(78.6%)

orofaciodigital syndrome 18

Short middle phalanx of finger Short philtrum Upslanted palpebral fissure

Autosomal recessive inheritance

125
(78.6%)

Ritscher-Schinzel syndrome 2

Short distal phalanx of finger Short philtrum Upslanted palpebral fissure

X-linked recessive inheritance

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.

125
(78.6%)

hyperphosphatasia with intellectual disability syndrome 2

Shortening of all distal phalanges of the fingers Tented upper lip vermilion Upslanted palpebral fissure

Autosomal recessive inheritance

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.

125
(78.6%)

Coffin-Siris syndrome 5

Long eyelashes Short distal phalanx of finger Thin upper lip vermilion

Autosomal dominant inheritance

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.

125
(78.6%)

intellectual disability, autosomal dominant 27

Long eyelashes Short distal phalanx of finger Short philtrum

Autosomal dominant inheritance

125
(78.6%)

Wiedemann-Steiner syndrome

Epicanthus Short middle phalanx of finger Short toe Thin upper lip vermilion

Autosomal dominant inheritance

Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.

125
(78.6%)

Simpson-Golabi-Behmel syndrome type 2

Epicanthus Short finger Thin upper lip vermilion

X-linked recessive inheritance

Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

125
(78.6%)

palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Downslanted palpebral fissures Short thumb Thin upper lip vermilion

Autosomal dominant inheritance

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

125
(78.6%)

Pierpont syndrome

Broad philtrum Short finger Short foot Short palm Telecanthus

Autosomal dominant inheritance

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

136
(78.5%)

Marshall syndrome

Epicanthus Micrognathia Radial bowing Thick upper lip vermilion

Autosomal dominant inheritance

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

137
(78.4%)

mandibulofacial dysostosis with alopecia

Everted lower lip vermilion Lower eyelid coloboma Micrognathia

Autosomal dominant inheritance

A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.

138
(78.4%)

atelosteogenesis type I

Aplasia/Hypoplasia of the ulna Cleft palate Micrognathia Short metacarpal

Autosomal dominant inheritance Sporadic

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

139
(78.4%)

arms, malformation of

Hypoplasia of the radius Hypoplasia of the ulna Radioulnar synostosis

Autosomal dominant inheritance

139
(78.4%)

mesomelic dwarfism, Reinhardt-Pfeiffer type

Hypoplasia of the ulna

Autosomal dominant inheritance

Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.

139
(78.4%)

upper limb mesomelic dysplasia

Distal ulnar hypoplasia Hypoplasia of the radius

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.

139
(78.4%)

ulna hypoplasia-intellectual disability syndrome

Bilateral ulnar hypoplasia Talipes equinovarus

Autosomal recessive inheritance

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

139
(78.4%)

hypoproteinemia, hypercatabolic

Bronchiectasis Hypoplasia of the ulna

Autosomal recessive inheritance

139
(78.4%)

brachydactyly type A6

Abnormality of the vertebral column Hypoplasia of the radius Hypoplasia of the ulna Short toe

Autosomal dominant inheritance

Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.

145
(78.4%)

kyphomelic dysplasia

Cleft palate Cleft upper lip Micrognathia Radial bowing Short metacarpal

Autosomal recessive inheritance

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.

146
(78.4%)

Larsen syndrome

Cleft upper lip Hypoplastic cervical vertebrae Shallow orbits Short metacarpal Short metatarsal

Autosomal dominant inheritance

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.

147
(78.3%)

trichorhinophalangeal syndrome type I

Micrognathia Short metacarpal Short metatarsal Sparse lateral eyebrow Thin upper lip vermilion

Autosomal dominant inheritance

An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

148
(78.3%)

short stature-brachydactyly-obesity-global developmental delay syndrome

Epicanthus Long philtrum Retrognathia Short metacarpal Short metatarsal

Autosomal recessive inheritance

149
(78.2%)

intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Downslanted palpebral fissures Increased size of the mandible Short distal phalanx of finger Thick lower lip vermilion

Autosomal dominant inheritance Sporadic

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

150
(78.2%)

short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1

11 pairs of ribs Downslanted palpebral fissures Short 5th metacarpal Thin upper lip vermilion

Autosomal dominant inheritance

151
(78.2%)

short-rib thoracic dysplasia 19 with or without polydactyly

Hypoplasia of the radius Long philtrum Short ribs

Autosomal recessive inheritance

152
(78.1%)

orofaciodigital syndrome type II

Median cleft lip Micrognathia Short palm Telecanthus

Autosomal recessive inheritance

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

153
(78.0%)

chromosome 17q12 duplication syndrome

Brachydactyly Broad thumb Downslanted palpebral fissures Micrognathia Smooth philtrum

Autosomal dominant inheritance

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.

153
(78.0%)

autosomal dominant Robinow syndrome 3

Brachydactyly Broad thumb Epicanthus Long philtrum Micrognathia

Autosomal dominant inheritance

Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.

155
(77.9%)

lethal multiple pterygium syndrome

Cleft palate Epicanthus Micrognathia Short finger

Autosomal recessive inheritance

Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.

155
(77.9%)

pseudoaminopterin syndrome

Cleft palate Micrognathia Narrow palpebral fissure Short thumb

Autosomal recessive inheritance

Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.

157
(77.9%)

Bohring-Opitz syndrome

Cleft upper lip Dislocated radial head Micrognathia Short toe Upslanted palpebral fissure

Autosomal dominant inheritance

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

158
(77.6%)

autosomal dominant Robinow syndrome 2

Broad thumb Micrognathia Short distal phalanx of finger Thin upper lip vermilion Triangular mouth

Autosomal dominant inheritance

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.

159
(77.6%)

acrofacial dysostosis, Palagonia type

Cleft upper lip Hypoplasia of the odontoid process Short 4th metacarpal Sparse eyebrow

Autosomal dominant inheritance

Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.

160
(77.6%)

spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Cleft palate Long philtrum Micrognathia Radial bowing Short metacarpal

Autosomal recessive inheritance

Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.

161
(77.6%)

acheiropody

Absent hand Aplasia of the ulna Fibular aplasia

Autosomal recessive inheritance

Acheiropodia is 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.

162
(77.6%)

acromicric dysplasia

Long eyelashes Long philtrum Short foot Short long bone Short palm

Autosomal dominant inheritance

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

162
(77.6%)

intellectual disability-sparse hair-brachydactyly syndrome

Broad philtrum Downslanted palpebral fissures Short metacarpal Short metatarsal

Autosomal dominant 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.

162
(77.6%)

geleophysic dysplasia 1

Short foot Short long bone Short palm Smooth philtrum Upslanted palpebral fissure

Autosomal recessive inheritance

Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.

162
(77.6%)

spondyloepiphyseal dysplasia, Cantu type

Blepharophimosis Carpal bone hypoplasia Short long bone Thick upper lip vermilion

Autosomal dominant inheritance

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia 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
(77.6%)

frontometaphyseal dysplasia 2

Downslanted palpebral fissures Short metacarpal Short metatarsal Short philtrum

Autosomal dominant inheritance

Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.

167
(77.6%)

Ayme-Gripp syndrome

Brachydactyly Downslanted palpebral fissures Mandibular prognathia Radioulnar synostosis Thin upper lip vermilion

Autosomal dominant inheritance

168
(77.5%)

autosomal recessive congenital ichthyosis 4B

Ectropion Everted lower lip vermilion Short finger

Autosomal recessive inheritance

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

168
(77.5%)

autosomal recessive congenital ichthyosis 2

Ectropion Everted lower lip vermilion Short finger Short toe

Autosomal recessive inheritance

An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.

170
(77.5%)

COG1-CDG

Downslanted palpebral fissures Micrognathia Rhizomelia Small hand Thin upper lip vermilion

Autosomal recessive inheritance

COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

171
(77.3%)

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Epicanthus Micrognathia Small hand Thin upper lip vermilion

Autosomal dominant inheritance

171
(77.3%)

Cornelia de Lange syndrome 2

Downslanted palpebral fissures Micrognathia Small hand Thin upper lip vermilion

X-linked recessive inheritance X-linked dominant inheritance

An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.

171
(77.3%)

X-linked intellectual disability-craniofacioskeletal syndrome

Downslanted palpebral fissures Micrognathia Short palm Thin upper lip vermilion

X-linked recessive inheritance X-linked dominant inheritance

X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.

171
(77.3%)

oculodentodigital dysplasia, autosomal recessive

Epicanthus Long philtrum Micrognathia Small hand

Autosomal recessive inheritance

Autosomal recessive form of oculodentodigital dysplasia.

171
(77.3%)

growth delay due to insulin-like growth factor I resistance

Micrognathia Small hand Thin upper lip vermilion Upslanted palpebral fissure

Autosomal dominant inheritance Autosomal recessive inheritance

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

171
(77.3%)

Cornelia de Lange syndrome 5

Long philtrum Micrognathia Small hand Telecanthus

X-linked inheritance X-linked dominant inheritance

177
(77.2%)

Marden-Walker syndrome

Arachnodactyly Epicanthus Long philtrum Micrognathia Radioulnar synostosis

Autosomal dominant inheritance

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

178
(77.2%)

spondyloepimetaphyseal dysplasia, Irapa type

Hypoplastic sacrum Pectus carinatum Short palm Upper limb undergrowth

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.

179
(77.0%)

craniofrontonasal syndrome

Brachydactyly Cleft upper lip Congenital pseudoarthrosis of the clavicle Downslanted palpebral fissures Hemihypotrophy of lower limb

X-linked dominant inheritance

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

180
(77.0%)

orofaciodigital syndrome 17

Central Y-shaped metacarpal Median cleft lip Retrognathia Short middle phalanx of the 2nd finger

Autosomal recessive inheritance

181
(77.0%)

hypertelorism, microtia, facial clefting syndrome

Cleft upper lip Micrognathia Narrow mouth Short 5th finger

Autosomal recessive inheritance

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.

181
(77.0%)

Diamond-Blackfan anemia 6

Cleft palate Cleft upper lip Micrognathia Short thumb

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.

183
(76.9%)

FG syndrome 1

Broad thumb Cleft upper lip Epicanthus Micrognathia Prominent fingertip pads

X-linked recessive inheritance

Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.

184
(76.9%)

multiple epiphyseal dysplasia, Lowry type

Cleft palate Fibular hypoplasia Micrognathia Short metacarpal Upslanted palpebral fissure

Sporadic

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.

185
(76.9%)

acrocapitofemoral dysplasia

Hypoplasia of the ulna Relative macrocephaly Short proximal phalanx of thumb Short ribs

Autosomal recessive inheritance

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

186
(76.9%)

orofaciodigital syndrome VIII

Median cleft lip Short tibia Telecanthus

X-linked recessive inheritance

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.

186
(76.9%)

orofaciodigital syndrome IX

Median cleft lip Short tibia Telecanthus

Autosomal recessive inheritance X-linked recessive inheritance

Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).

188
(76.8%)

Zimmermann-Laband syndrome 1

Mandibular prognathia Short distal phalanx of finger Thick eyebrow Thick lower lip vermilion

Autosomal dominant inheritance

Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.

189
(76.7%)

short-rib thoracic dysplasia 18 with polydactyly

Brachydactyly Epicanthus Micrognathia Micromelia Thin upper lip vermilion

Autosomal recessive inheritance

189
(76.7%)

cranioectodermal dysplasia 2

Brachydactyly Broad philtrum Epicanthus Mesomelia Micrognathia

Autosomal recessive inheritance

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.

189
(76.7%)

tetrasomy 12p

Epicanthus Mesomelia Micrognathia Short toe Thin 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.

192
(76.7%)

microphthalmia, syndromic 2

Blepharophimosis Hand clenching Long philtrum Microcephaly Radioulnar synostosis

X-linked dominant inheritance

193
(76.7%)

Treacher Collins syndrome 3

Cleft palate Lower eyelid coloboma Micrognathia

Autosomal recessive inheritance

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.

193
(76.7%)

Treacher-Collins syndrome 1

Cleft palate Micrognathia Upper eyelid coloboma

Autosomal dominant inheritance

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.

195
(76.6%)

progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Epicanthus Short metacarpal Tented upper lip vermilion

Autosomal recessive inheritance

195
(76.6%)

Roifman syndrome

Downslanted palpebral fissures Short metacarpal Short toe Thin upper lip vermilion

Autosomal recessive inheritance

197
(76.6%)

ALG12-CDG

Hypoplasia of the radius Thin upper lip vermilion

Autosomal recessive inheritance

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).

198
(76.5%)

spondyloperipheral dysplasia-short ulna syndrome

Hypoplasia of the ulna Malar flattening Short distal phalanx of the 3rd finger Short foot

Autosomal dominant inheritance

An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.

199
(76.5%)

autosomal dominant omodysplasia

Long philtrum Rhizomelic arm shortening Short 1st metacarpal Short humerus

Autosomal dominant inheritance

Autosomal dominant form of omodysplasia.

200
(76.5%)

COG7-CDG

Micrognathia Overlapping fingers Smooth philtrum Upslanted palpebral fissure

Autosomal recessive inheritance

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.