601
(69.1%)

Poland syndrome

Abnormality of the breast Short ribs Unilateral oligodactyly

Autosomal dominant inheritance

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

602
(69.1%)

brachydactyly-nystagmus-cerebellar ataxia syndrome

Short metacarpal Short metatarsal Strabismus

Autosomal dominant inheritance

Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.

602
(69.1%)

rhizomelic dysplasia, Patterson-Lowry type

Platyspondyly Short humerus Short metacarpal

Autosomal recessive inheritance

Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.

602
(69.1%)

fibular hypoplasia and complex brachydactyly

Brachydactyly Fibular aplasia Fibular hypoplasia Short metacarpal

Autosomal recessive inheritance

602
(69.1%)

metaphyseal dysplasia without hypotrichosis

Abnormality of the vertebral column Micromelia Short long bone Short metacarpal

Autosomal recessive inheritance

602
(69.1%)

Czech dysplasia, metatarsal type

Platyspondyly Short metacarpal Short metatarsal Short toe

Autosomal dominant inheritance

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

602
(69.1%)

Satoyoshi syndrome

Hypoplasia of the uterus Short metacarpal Short metatarsal

Sporadic

Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.

608
(69.0%)

tetraamelia syndrome 1

Cleft palate Cleft upper lip Micrognathia Tetraamelia

Autosomal recessive inheritance Heterogeneous

608
(69.0%)

CHILD syndrome

Aplasia/hypoplasia of the extremities Cleft upper lip Micrognathia

X-linked dominant inheritance Heterogeneous

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

610
(69.0%)

glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome

Brachydactyly Broad metacarpals Hypoplasia of the maxilla Narrow palate Shallow orbits

Autosomal dominant inheritance

Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.

610
(69.0%)

Weill-Marchesani syndrome 1

Brachydactyly Broad metacarpals Hypoplasia of the maxilla Narrow palate Shallow orbits

Autosomal recessive inheritance

Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.

612
(69.0%)

Joubert syndrome 14

Epicanthus Malar flattening Postaxial polydactyly Short philtrum

Autosomal recessive inheritance

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.

613
(69.0%)

Hurler syndrome

Gingival overgrowth Hypoplasia of the femoral head Short clavicles Thick vermilion border

Autosomal recessive inheritance

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

614
(69.0%)

multiple benign circumferential skin creases on limbs 1

Cleft palate Epicanthus Long fingers Micrognathia

Autosomal dominant inheritance

614
(69.0%)

Gordon syndrome

Epicanthus Micrognathia Short phalanx of finger Submucous cleft hard palate

Autosomal dominant inheritance

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

614
(69.0%)

Carey-Fineman-Ziter syndrome

Cleft palate Epicanthus Micrognathia Tapered finger

Autosomal recessive inheritance

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

614
(69.0%)

Dubowitz syndrome

Clinodactyly of the 5th finger Epicanthus Micrognathia Submucous cleft hard palate

Autosomal recessive inheritance

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

618
(68.9%)

lethal Kniest-like dysplasia

Brachydactyly Cleft palate Narrow mouth Rhizomelia Short ribs

Autosomal recessive inheritance

Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.

619
(68.9%)

spondyloepimetaphyseal dysplasia, aggrecan type

Broad thumb Malar flattening Mandibular prognathia Short finger

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

620
(68.9%)

Stankiewicz-Isidor syndrome

Absent thumb Facial asymmetry Micrognathia Short thumb

Autosomal dominant inheritance

621
(68.9%)

Hunter-Macdonald syndrome

Blepharophimosis Clinodactyly of the 5th finger Epiphyseal dysplasia Malar flattening Thin upper lip vermilion

Autosomal dominant inheritance

622
(68.9%)

frontometaphyseal dysplasia 1

Antegonial notching of mandible Arachnodactyly Broad phalanges of the hand Downslanted palpebral fissures High palate

X-linked recessive inheritance

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

623
(68.8%)

Malan overgrowth syndrome

Downslanted palpebral fissures Everted lower lip vermilion Long fingers Mandibular prognathia

Autosomal dominant inheritance

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

624
(68.8%)

autosomal recessive cutis laxa type 2C

Entropion Hand clenching Kyphoscoliosis Long philtrum

Autosomal recessive inheritance

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.

625
(68.8%)

brachydactyly type E1

Multiple impacted teeth Round face Short clavicles Short metacarpal Short metatarsal

Autosomal dominant inheritance

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.

625
(68.8%)

CODAS syndrome

Anteverted nares Delayed eruption of teeth Hypoplasia of the odontoid process Short humerus Short metacarpal

Autosomal recessive inheritance

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

627
(68.8%)

short-rib thoracic dysplasia 13 with or without polydactyly

Cleft lip Cleft palate Microretrognathia Rhizomelia

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.

628
(68.7%)

mesomelic dysplasia, Kantaputra type

Mesomelia Radial bowing

Autosomal dominant inheritance

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.

628
(68.7%)

spondyloepimetaphyseal dysplasia, Missouri type

Platyspondyly Radial bowing Rhizomelia

Autosomal dominant inheritance

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

630
(68.7%)

Hall-Riggs syndrome

Brachydactyly Epicanthus Metaphyseal dysplasia Microcephaly U-Shaped upper lip vermilion

Autosomal recessive inheritance

Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.

631
(68.7%)

MOGS-CDG

Hand clenching High palate Long eyelashes Retrognathia

Autosomal recessive inheritance

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

631
(68.7%)

macrocephaly, dysmorphic facies, and psychomotor retardation

Arachnodactyly Downslanted palpebral fissures High palate Large hands Mandibular prognathia

Autosomal recessive inheritance

633
(68.6%)

Meier-Gorlin syndrome 7

Aplasia/Hypoplasia of the patella Cleft palate Thin eyebrow

Autosomal recessive inheritance

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.

634
(68.6%)

split hand-foot malformation 1

Cleft palate Hand oligodactyly

Autosomal dominant inheritance

Split-hand/foot malformation mapped to chromosome 7q21.3

634
(68.6%)

Fanconi anemia complementation group L

Absent thumb Cleft palate

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.

636
(68.6%)

rhizomelic chondrodysplasia punctata type 2

High palate Micrognathia Short humerus

Autosomal recessive inheritance

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.

637
(68.6%)

Wilson-Turner syndrome

Misalignment of teeth Retrognathia Small hand Thick eyebrow

X-linked recessive inheritance

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

638
(68.5%)

microcephaly, growth retardation, cataract, hearing loss, and unusual appearance

Epicanthus Retrognathia Short palm

Autosomal recessive inheritance

639
(68.5%)

achondrogenesis type II

Cleft palate Short ribs Short tubular bones of the hand

Autosomal dominant inheritance

Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

640
(68.5%)

peroxisome biogenesis disorder 5A (Zellweger)

Cleft palate Epicanthus Epiphyseal stippling Micrognathia Single transverse palmar crease

Autosomal recessive inheritance

641
(68.4%)

anauxetic dysplasia 1

Hypodontia Rhizomelia Short finger Short toe

Autosomal recessive inheritance

642
(68.3%)

Meckel syndrome, type 1

Bowing of the long bones Cleft upper lip Micrognathia Postaxial hand polydactyly Wide mouth

Autosomal recessive inheritance

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.

643
(68.3%)

Schuurs-Hoeijmakers syndrome

Downslanted palpebral fissures Large hands Thin upper lip vermilion Wide mouth

Autosomal dominant inheritance

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

644
(68.3%)

Sakati-Nyhan syndrome

Broad thumb Dental crowding Lower limb undergrowth Mandibular prognathia Shallow orbits

Autosomal dominant inheritance

An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.

645
(68.3%)

fucosidosis

Absent/hypoplastic paranasal sinuses Thick lower lip vermilion Tortuosity of conjunctival vessels

Autosomal recessive inheritance

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

646
(68.3%)

chromosome 6pter-p24 deletion syndrome

Cleft upper lip Epicanthus Hip dysplasia Malar flattening

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.

647
(68.2%)

osteogenesis imperfecta type 7

Long philtrum Micromelia Round face

Autosomal recessive inheritance

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

648
(68.2%)

acrofacial dysostosis Cincinnati type

Cleft palate Downslanted palpebral fissures Femoral bowing Micrognathia

Autosomal dominant inheritance

Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.

648
(68.2%)

lethal restrictive dermopathy

Absent eyelashes Micrognathia Overtubulated long bones Submucous cleft hard palate

Autosomal recessive inheritance Heterogeneous

Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.

650
(68.2%)

peroxisome biogenesis disorder 2A (Zellweger)

Cleft palate Epicanthus Micrognathia Single transverse palmar crease

Autosomal recessive inheritance

651
(68.2%)

thumb deformity-alopecia-pigmentation anomaly syndrome

Short thumb Single median maxillary incisor

Autosomal dominant inheritance

Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.

651
(68.2%)

binder syndrome

Dental malocclusion Short distal phalanx of finger

Heterogeneous

Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.

651
(68.2%)

nephrosis-deafness-urinary tract-digital malformations syndrome

Bifid uvula Short distal phalanx of the thumb

Autosomal recessive inheritance X-linked dominant inheritance

Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.

651
(68.2%)

Brachymorphism-onychodysplasia-dysphalangism syndrome

Short middle phalanx of the 5th finger Wide mouth

Autosomal dominant inheritance

Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.

651
(68.2%)

Stern-Lubinsky-Durrie syndrome

Abnormality of the dentition Short distal phalanx of finger

Autosomal dominant inheritance

Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.

651
(68.2%)

progressive myoclonic epilepsy type 9

Microglossia Short thumb

Autosomal recessive inheritance

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.

651
(68.2%)

symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch

Microdontia Short middle phalanx of finger

Autosomal dominant inheritance

658
(68.2%)

stapes ankylosis with broad thumbs and toes

Broad thumb Short distal phalanx of finger Underdeveloped nasal alae

Autosomal dominant inheritance

Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

659
(68.1%)

cleft lip/palate-ectodermal dysplasia syndrome

Cleft upper lip Malar flattening Palmoplantar hyperkeratosis Sparse eyelashes

Autosomal recessive inheritance

An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

660
(68.1%)

osteogenesis imperfecta type 8

Radial bowing Round face Short metacarpal

Autosomal recessive inheritance

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.

661
(68.1%)

rhizomelic dysplasia, scoliosis, and retinitis pigmentosa

Amelogenesis imperfecta Short humerus Short ribs

Autosomal recessive inheritance

662
(68.1%)

cerebrooculonasal syndrome

Broad philtrum Epicanthus Malar flattening Postaxial hand polydactyly

Autosomal dominant inheritance

Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.

662
(68.1%)

hypomyelinating leukodystrophy 10

Arachnodactyly Downslanted palpebral fissures Malar flattening Smooth philtrum

Autosomal recessive inheritance

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.

664
(68.1%)

Uruguay Faciocardiomusculoskeletal syndrome

Broad palm Downslanted palpebral fissures Everted lower lip vermilion Retrognathia

X-linked recessive inheritance

665
(68.1%)

rhizomelic chondrodysplasia punctata type 3

Failure to thrive Short femur Short humerus

Autosomal recessive inheritance

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.

665
(68.1%)

VACTERL association, X-linked, with or without hydrocephalus

Absent radius Short humerus Urethral atresia

X-linked recessive inheritance

667
(68.1%)

oculoauriculovertebral spectrum with radial defects

Cleft palate Non-midline cleft lip Short mandibular rami Triphalangeal thumb

Autosomal dominant inheritance

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.

667
(68.1%)

Catel-Manzke syndrome

Cleft upper lip Clinodactyly of the 5th finger Glossoptosis Micrognathia

Autosomal recessive inheritance

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.

669
(68.0%)

absent radius-anogenital anomalies syndrome

Absent radius Hydrocephalus

X-linked inheritance

Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.

670
(68.0%)

Lenz-Majewski hyperostotic dwarfism

Abnormality of the dentition Humeroradial synostosis Hyperextensibility of the finger joints Lacrimal duct stenosis Micrognathia

Autosomal dominant inheritance Sporadic

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

671
(68.0%)

Brachymetatarsus 4

Short 4th toe Short fourth metatarsal

Autosomal dominant inheritance

671
(68.0%)

anonychia-onychodystrophy with brachydactyly type b and ectrodactyly

Ectodermal dysplasia Short metatarsal Type B brachydactyly

Autosomal dominant inheritance

673
(67.9%)

Potocki-Shaffer syndrome

Brachycephaly Brachydactyly Epicanthus Short philtrum Single transverse palmar crease

Autosomal dominant inheritance Contiguous gene syndrome

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

674
(67.9%)

PARC syndrome

Absent eyelashes Cleft palate Microretrognathia

Autosomal dominant inheritance

PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.

674
(67.9%)

Treacher Collins syndrome 2

Cleft palate Downslanted palpebral fissures Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.

674
(67.9%)

agnathia-otocephaly complex

Cleft palate Downslanted palpebral fissures Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

674
(67.9%)

Schilbach-Rott syndrome

Epicanthus Micrognathia Submucous cleft hard palate

Autosomal dominant inheritance

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.

674
(67.9%)

Cree intellectual disability syndrome

Cleft soft palate Downslanted palpebral fissures Micrognathia

Autosomal recessive inheritance

674
(67.9%)

Bailey-Bloch congenital myopathy

Cleft palate Downslanted palpebral fissures Micrognathia

Autosomal recessive inheritance

Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

674
(67.9%)

Ritscher-Schinzel syndrome 1

Cleft palate Downslanted palpebral fissures Micrognathia

Autosomal recessive inheritance

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.

674
(67.9%)

diaphanospondylodysostosis

Cleft palate Epicanthus Micrognathia

Autosomal recessive inheritance

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

682
(67.9%)

Fanconi anemia complementation group C

Absent radius Microcephaly Short thumb

Autosomal recessive inheritance

Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.

682
(67.9%)

Fanconi anemia complementation group E

Absent radius Microcephaly Short thumb

Autosomal recessive inheritance

Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.

682
(67.9%)

Fanconi anemia complementation group A

Absent radius Microcephaly Short thumb

Autosomal recessive inheritance

Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.

682
(67.9%)

Fanconi anemia complementation group D2

Absent radius Microcephaly Short thumb

Autosomal recessive inheritance

Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.

686
(67.8%)

intellectual disability, autosomal dominant 13

Downslanted palpebral fissures Small hand

Autosomal dominant inheritance

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.

686
(67.8%)

X-linked intellectual disability, Stocco dos Santos type

Epicanthus Short foot Small hand

X-linked inheritance

688
(67.7%)

Noonan syndrome 1

Brachydactyly Epicanthus High palate Micrognathia

Autosomal dominant inheritance

Noonan syndrome caused by mutations in the PTPN11 gene.

689
(67.7%)

anonychia-ectrodactyly

Aplasia of metacarpal bones Ectodermal dysplasia

Autosomal dominant inheritance

689
(67.7%)

split hand-foot malformation 2

Short metacarpal Split hand

X-linked inheritance

A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.

689
(67.7%)

brachydactyly-arterial hypertension syndrome

Hypertension Short metacarpal

Autosomal dominant inheritance

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

689
(67.7%)

talo-patello-scaphoid osteolysis

Osteolysis of scaphoids Short 4th metacarpal

Autosomal recessive inheritance

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.

689
(67.7%)

asphyxiating thoracic dystrophy 2

Narrow chest Short foot Short metacarpal

Autosomal recessive inheritance

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

689
(67.7%)

pseudohypoparathyroidism type 1B

Pseudohypoparathyroidism Short metacarpal

Autosomal dominant inheritance Sporadic

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

689
(67.7%)

split hand-foot malformation 4

Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of metatarsal bones Syndactyly

Autosomal dominant inheritance

Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.

689
(67.7%)

proximal symphalangism 1A

Metacarpophalangeal synostosis Short 5th metacarpal Stapes ankylosis

Autosomal dominant inheritance

689
(67.7%)

multiple epiphyseal dysplasia type 4

Brachydactyly Hypoplasia of the femoral head Short metacarpal

Autosomal recessive inheritance

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

689
(67.7%)

epiphyseal dysplasia, multiple, 3

Abnormality of the hip joint Short metacarpal

Autosomal dominant inheritance

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.

689
(67.7%)

exostoses, multiple, type 2

Rib exostoses Short metacarpal

Autosomal dominant inheritance

This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.

689
(67.7%)

exostoses, multiple, type 1

Rib exostoses Short metacarpal

Autosomal dominant inheritance

Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.