897
(64.9%)

Hennekam-Beemer syndrome

High palate Micrognathia Upslanted palpebral fissure

Autosomal recessive inheritance

Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.

897
(64.9%)

Legius syndrome

Epicanthus High palate Micrognathia

Autosomal dominant inheritance

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.

897
(64.9%)

short stature-craniofacial anomalies-genital hypoplasia syndrome

Epicanthus Microretrognathia Narrow mouth

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.

897
(64.9%)

craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Abnormality of the dentition Epicanthus Micrognathia

Autosomal recessive inheritance

897
(64.9%)

immunodeficiency-centromeric instability-facial anomalies syndrome 1

Epicanthus Macroglossia Micrognathia

Autosomal recessive inheritance

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.

897
(64.9%)

chromosome 16q22 deletion syndrome

Epicanthus High palate Micrognathia

Sporadic

897
(64.9%)

Cole-Carpenter syndrome 2

Downslanted palpebral fissures High palate Microretrognathia

Autosomal recessive inheritance

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.

897
(64.9%)

CK syndrome

Epicanthus High palate Micrognathia

X-linked recessive inheritance

897
(64.9%)

early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Micrognathia Upslanted palpebral fissure Widely spaced teeth

Autosomal recessive inheritance

897
(64.9%)

microcephaly, short stature, and impaired glucose metabolism 2

Epicanthus Micrognathia Narrow mouth

Autosomal recessive inheritance

Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.

897
(64.9%)

multiple congenital anomalies-hypotonia-seizures syndrome 2

Micrognathia Narrow mouth Upslanted palpebral fissure

X-linked recessive inheritance

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.

912
(64.9%)

spondyloepimetaphyseal dysplasia, PAPSS2 type

Brachydactyly Lower limb undergrowth Secondary amenorrhea

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

913
(64.9%)

short stature-obesity syndrome

Brachydactyly Micrognathia Micromelia Sloping forehead

Autosomal recessive inheritance

914
(64.9%)

Hermansky-Pudlak syndrome 2

Hip dysplasia Microcephaly Thin upper lip vermilion Upslanted palpebral fissure

Autosomal recessive inheritance

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

915
(64.8%)

linear skin defects with multiple congenital anomalies 2

Highly arched eyebrow Long philtrum Microcephaly Sandal gap

X-linked dominant inheritance

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.

916
(64.8%)

acrofacial dysostosis, Weyers type

Conical tooth Short palm

Autosomal dominant inheritance

Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

916
(64.8%)

acrofacial dysostosis, Catania type

Carious teeth Short palm Widow's peak

Autosomal dominant inheritance

Acrofacialdysostosis, Catania type is a very rare type of 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.

916
(64.8%)

autosomal recessive Kenny-Caffey syndrome

Carious teeth Short foot Short palm

Autosomal recessive inheritance

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

916
(64.8%)

spinocerebellar ataxia 47

High palate Small hand

Autosomal dominant inheritance

920
(64.8%)

craniometaphyseal dysplasia, autosomal recessive

Broad alveolar ridges Flared metaphysis Mandibular prognathia Patchy sclerosis of finger phalanx Telecanthus

Autosomal recessive inheritance

Autosomal recessive form of craniometaphyseal dysplasia.

921
(64.8%)

spondylometaphyseal dysplasia, 'corner fracture' type

Hypoplasia of the odontoid process Pectus carinatum Short femoral neck

Autosomal dominant inheritance

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

922
(64.8%)

calcaneonavicular coalition

Metacarpophalangeal synostosis Short metacarpal Underdeveloped nasal alae

Autosomal dominant inheritance

A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.

922
(64.8%)

spondyloepimetaphyseal dysplasia with multiple dislocations

Broad distal phalanx of finger Carpal bone hypoplasia Malar flattening

Autosomal dominant inheritance

A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.

924
(64.7%)

tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities

Tetraamelia Upslanted palpebral fissure Wide mouth

Autosomal recessive inheritance

925
(64.7%)

intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism

Microcephaly Preaxial hand polydactyly Thick eyebrow Thin upper lip vermilion

Autosomal recessive inheritance

925
(64.7%)

microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Long eyebrows Long philtrum Progressive microcephaly Tapered finger

Autosomal recessive inheritance

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.

927
(64.7%)

platyspondylic dysplasia, Torrance type

Coarse facial features Severe limb shortening Short long bone Short ribs

Autosomal dominant inheritance

928
(64.6%)

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Cubitus valgus Downslanted palpebral fissures Microcephaly Short philtrum

X-linked recessive inheritance

An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.

928
(64.6%)

CBL-related disorder

Cubitus valgus Epicanthus Frontal bossing Long philtrum

Autosomal dominant inheritance

CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.

930
(64.6%)

lissencephaly 7 with cerebellar hypoplasia

Full cheeks Hand clenching Micrognathia

Autosomal recessive inheritance

930
(64.6%)

spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant

Hand clenching Micrognathia Midface retrusion

Autosomal dominant inheritance

930
(64.6%)

congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

Large hands Micrognathia Sloping forehead

Autosomal recessive inheritance

933
(64.6%)

thoracic dysplasia-hydrocephalus syndrome

Limb undergrowth Short ribs

Autosomal recessive inheritance

934
(64.5%)

otofaciocervical syndrome 2

Carious teeth Lacrimal duct stenosis Microretrognathia Tapered finger

Autosomal recessive inheritance

Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.

935
(64.5%)

mucopolysaccharidosis type 4A

Hypoplasia of the odontoid process Pointed proximal second through fifth metacarpals Wide mouth

Autosomal recessive inheritance

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.

935
(64.5%)

mucopolysaccharidosis type 4B

Hypoplasia of the odontoid process Pointed proximal second through fifth metacarpals Wide mouth

Autosomal recessive inheritance

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.

937
(64.5%)

asymmetric short stature syndrome

Convex nasal ridge Dental crowding Hemihypotrophy of lower limb Micrognathia

Autosomal dominant inheritance

938
(64.5%)

Marinesco-Sjogren syndrome

Microcephaly Short metacarpal Short metatarsal

Autosomal recessive inheritance

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

939
(64.5%)

blepharocheilodontic syndrome 1

Cleft upper lip Cutaneous syndactyly Ectropion of lower eyelids

Autosomal dominant inheritance

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.

939
(64.5%)

3MC syndrome 3

Cleft palate Cleft upper lip Clinodactyly Epicanthus inversus

Autosomal recessive inheritance

Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.

941
(64.4%)

Dandy-Walker malformation-postaxial polydactyly syndrome

Microretrognathia Narrow palpebral fissure Postaxial hand polydactyly Wide nasal bridge

Autosomal recessive inheritance

Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.

942
(64.4%)

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Arachnodactyly Malar flattening Ulnar bowing

Autosomal recessive inheritance

943
(64.4%)

intellectual disability, autosomal dominant 14

Aplasia/Hypoplasia of the distal phalanges of the hand Brachydactyly Long eyelashes Thick lower lip vermilion Wide mouth

Autosomal dominant inheritance

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.

944
(64.4%)

Stickler syndrome type 2

Arachnodactyly Cleft palate Micrognathia

Autosomal dominant inheritance

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).

944
(64.4%)

Loeys-Dietz syndrome 1

Cleft palate Micrognathia Postaxial hand polydactyly

Autosomal dominant inheritance Heterogeneous

A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.

946
(64.4%)

hirsutism-skeletal dysplasia-intellectual disability syndrome

Brachycephaly Coxa valga Epicanthus Everted lower lip vermilion

Autosomal dominant inheritance

947
(64.4%)

Noonan syndrome 7

Cubitus valgus Deep palmar crease Downslanted palpebral fissures Macrocephaly Thick vermilion border

Autosomal dominant inheritance

Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.

948
(64.3%)

Waardenburg syndrome type 3

Brachydactyly Mandibular prognathia Scapular winging Telecanthus

Autosomal dominant inheritance Autosomal recessive inheritance Autosomal dominant contiguous gene syndrome

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

949
(64.3%)

nemaline myopathy 2

Abnormal rib cage morphology Cleft palate Hand clenching Long philtrum

Autosomal recessive inheritance Heterogeneous

An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.

950
(64.2%)

intellectual developmental disorder with dysmorphic facies and ptosis

Downslanted palpebral fissures Microcephaly Short philtrum Talipes equinovarus

Autosomal dominant inheritance

950
(64.2%)

hereditary spastic paraplegia 51

Downslanted palpebral fissures Microcephaly Short philtrum Talipes equinovarus

Autosomal recessive inheritance

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.

950
(64.2%)

global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Epicanthus Microcephaly Smooth philtrum Talipes equinovarus

Autosomal dominant inheritance

950
(64.2%)

intellectual disability, autosomal recessive 5

Microcephaly Pes cavus Telecanthus Thick upper lip vermilion

Autosomal recessive inheritance

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.

954
(64.2%)

Jackson-Weiss syndrome

Malar flattening Short metatarsal

Autosomal dominant inheritance

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

954
(64.2%)

Townes-Brocks syndrome 1

Aplasia/Hypoplasia of the 3rd toe Preauricular skin tag Short metatarsal

Autosomal dominant inheritance

956
(64.2%)

spondyloepimetaphyseal dysplasia, Krakow type

Brachydactyly High palate Mesomelia

Autosomal recessive inheritance

957
(64.1%)

short-rib thoracic dysplasia 9 with or without polydactyly

Short femoral neck Short ribs Wide mouth

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.

958
(64.1%)

absent thumb-short stature-immunodeficiency syndrome

Absent thumb Anosmia

Autosomal recessive inheritance

Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.

959
(64.0%)

neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

Epicanthus High palate Mandibular prognathia Tapered finger

Autosomal recessive inheritance

959
(64.0%)

orofaciodigital syndrome 16

Hamartoma of tongue Postaxial hand polydactyly Retrognathia Short palpebral fissure

Autosomal recessive inheritance

959
(64.0%)

progeroid and marfanoid aspect-lipodystrophy syndrome

Arachnodactyly Downslanted palpebral fissures High, narrow palate Retrognathia

Autosomal dominant inheritance

959
(64.0%)

intellectual disability, autosomal recessive 61

High palate Long eyelashes Mandibular prognathia Tapered finger

Autosomal recessive inheritance

An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.

959
(64.0%)

Loeys-Dietz syndrome 4

Arachnodactyly Downslanted palpebral fissures High palate Retrognathia

Autosomal dominant inheritance

Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.

964
(64.0%)

Ehlers-Danlos syndrome, classic type, 1

Epicanthus Hyperextensibility of the finger joints Irregularly spaced teeth Narrow maxilla

Autosomal dominant inheritance

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.

965
(63.9%)

neurodevelopmental disorder with central and peripheral motor dysfunction

11 pairs of ribs Cleft palate Glossoptosis Hyperextensibility of the finger joints

Autosomal recessive inheritance

966
(63.9%)

Lambotte syndrome

Narrow mouth Preaxial foot polydactyly Retrognathia Telecanthus

Autosomal recessive inheritance

966
(63.9%)

scalp-ear-nipple syndrome

2-3 toe syndactyly Agenesis of permanent teeth Epicanthus Mandibular prognathia

Autosomal dominant inheritance

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

968
(63.9%)

cutis marmorata telangiectatica congenita (disease)

Glaucoma Short lower limbs

Autosomal recessive inheritance

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

968
(63.9%)

dwarfism with stiff joints and ocular abnormalities

Glaucoma Short lower limbs

Autosomal dominant inheritance

968
(63.9%)

axial spondylometaphyseal dysplasia

Rhizomelia Rod-cone dystrophy Short femoral neck

Autosomal recessive inheritance

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.

968
(63.9%)

spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Rhizomelia Short femoral neck obsolete Hypotrichosis

Autosomal dominant inheritance

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.

972
(63.9%)

holoprosencephaly 7

Bilateral cleft lip and palate Hypoplasia of the premaxilla Parietal bossing Upslanted palpebral fissure

Autosomal dominant inheritance

Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.

973
(63.8%)

mandibuloacral dysplasia with type A lipodystrophy

High palate Micrognathia Osteolytic defects of the distal phalanges of the hand

Autosomal recessive inheritance

A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.

973
(63.8%)

mandibuloacral dysplasia with type B lipodystrophy

Micrognathia Narrow mouth Osteolytic defects of the distal phalanges of the hand Short phalanx of finger

Autosomal recessive inheritance Heterogeneous

975
(63.8%)

46,XX disorder of sex development-skeletal anomalies syndrome

Short mandibular condyles Ulnar radial head dislocation

Autosomal recessive inheritance

976
(63.8%)

mucosulfatidosis

Broad thumb Coarse facial features Hypoplastic vertebral bodies

Autosomal recessive inheritance

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

977
(63.7%)

thanatophoric dysplasia type 1

Short long bone Short ribs Small face

Autosomal dominant inheritance

Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

978
(63.7%)

Rosselli-Gulienetti syndrome

Cleft palate Cleft upper lip Palmoplantar hyperkeratosis Sparse eyelashes

Autosomal recessive inheritance

A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene

978
(63.7%)

orofacial cleft 15

Bilateral cleft lip Epicanthus Single transverse palmar crease

Autosomal dominant inheritance

Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.

980
(63.7%)

Adams-Oliver syndrome 2

Low anterior hairline Micrognathia Narrow palpebral fissure Single transverse palmar crease

Autosomal recessive inheritance

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.

981
(63.7%)

Patterson-Stevenson-Fontaine syndrome

Cleft palate Micrognathia Split hand

Autosomal dominant inheritance

Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.

981
(63.7%)

split hand-foot malformation 3

Cleft palate Microretrognathia Narrow mouth Split hand

Autosomal dominant inheritance Autosomal recessive inheritance

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.

983
(63.7%)

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

11 pairs of ribs Depressed nasal ridge Distal shortening of limbs Hypoplasia of the calcaneus

X-linked dominant inheritance

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

984
(63.7%)

palant cleft palate syndrome

Cleft palate Contracture of the proximal interphalangeal joint of the 5th finger Exaggerated cupid's bow Upslanted palpebral fissure

Autosomal recessive inheritance

984
(63.7%)

intellectual developmental disorder, X-linked 108

Clinodactyly of the 5th finger Downslanted palpebral fissures Thin upper lip vermilion

X-linked recessive inheritance

984
(63.7%)

Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features

Clinodactyly of the 5th finger High palate Thin upper lip vermilion Upslanted palpebral fissure

Autosomal recessive inheritance

984
(63.7%)

severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Blepharophimosis Long fingers Thin upper lip vermilion Wide mouth

Autosomal dominant inheritance

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.

984
(63.7%)

developmental and epileptic encephalopathy, 66

Clinodactyly of the 5th finger Downslanted palpebral fissures Thin upper lip vermilion Wide mouth

Autosomal dominant inheritance

989
(63.7%)

pterygium colli-intellectual disability-digital anomalies syndrome

Brachycephaly Broad distal phalanx of finger Epicanthus inversus Proximal placement of thumb

Autosomal dominant inheritance

Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.

989
(63.7%)

curry-Jones syndrome

Blepharophimosis Broad thumb Craniosynostosis Facial asymmetry Preaxial hand polydactyly

Somatic mosaicism

Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

989
(63.7%)

Greig cephalopolysyndactyly syndrome

Broad thumb Downslanted palpebral fissures High forehead Postaxial hand polydactyly Trigonocephaly

Autosomal dominant inheritance

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

992
(63.6%)

multiple synostoses syndrome 3

Cleft palate Dolichocephaly Limited interphalangeal movement Metacarpal synostosis

Autosomal dominant inheritance

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.

992
(63.6%)

autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Broad thumb Cleft palate Microcephaly

Autosomal recessive inheritance

994
(63.6%)

mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Epicanthus Flared iliac wings J-shaped sella turcica Thick vermilion border

Autosomal recessive inheritance

995
(63.6%)

PYCR1-related de Barsy syndrome

Blepharophimosis Elbow flexion contracture Large fontanelles Thin vermilion border

Autosomal recessive inheritance

Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.

995
(63.6%)

Noonan syndrome 4

Cubitus valgus Epicanthus Macrocephaly Thick lower lip vermilion

Autosomal dominant inheritance

Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.

997
(63.5%)

lethal short-limb skeletal dysplasia, Al Gazali type

Macrocephaly Mesomelia Shortening of all metacarpals

Autosomal recessive inheritance

997
(63.5%)

chondrodysplasia-pseudohermaphroditism syndrome

Microcephaly Micromelia Short metacarpal

Autosomal recessive inheritance

Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.

999
(63.5%)

osteogenesis imperfecta type 9

Dentinogenesis imperfecta Short lower limbs

Autosomal recessive inheritance

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.

1000
(63.5%)

ehlers-danlos syndrome, classic-like, 2

High palate Micrognathia Thin eyebrow

Autosomal recessive inheritance