501
(70.7%)

Aicardi syndrome

Cleft upper lip Missing ribs Proximal placement of thumb Sparse lateral eyebrow

X-linked dominant inheritance

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

502
(70.7%)

chromosome 18q deletion syndrome

Cleft upper lip Epicanthus Mandibular prognathia Proximal placement of thumb

Autosomal dominant inheritance Sporadic

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.

503
(70.6%)

Geleophysic dysplasia 2

Short foot Short palm Thin upper lip vermilion

Autosomal dominant inheritance

Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.

503
(70.6%)

intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Short foot Small hand Thin upper lip vermilion Wide mouth

Autosomal dominant inheritance

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).

505
(70.6%)

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

Blepharitis Cleft upper lip Hand polydactyly Hypoplasia of the maxilla

Autosomal dominant inheritance Heterogeneous

An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.

506
(70.6%)

pseudohypoparathyroidism type 1A

Delayed eruption of teeth Full cheeks Short finger Short metatarsal Short toe

Autosomal dominant inheritance

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).

507
(70.6%)

microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome

High palate Micrognathia Overlapping fingers Upslanted palpebral fissure

Autosomal recessive inheritance

507
(70.6%)

lethal arthrogryposis-anterior horn cell disease syndrome

Downslanted palpebral fissures Hand clenching High palate Micrognathia

Autosomal recessive inheritance

507
(70.6%)

Galloway-Mowat syndrome 1

Epicanthus Hand clenching Micrognathia Wide mouth

Autosomal recessive inheritance

510
(70.6%)

tall stature-intellectual disability-renal anomalies syndrome

Bowing of the legs Epicanthus Large hands Macrocephaly Thick vermilion border

Autosomal recessive inheritance

511
(70.5%)

acroosteolysis-keloid-like lesions-premature aging syndrome

Brachydactyly Micrognathia Osteolytic defects of the phalanges of the hand Thin vermilion border

Autosomal dominant inheritance

512
(70.5%)

Meier-Gorlin syndrome 5

Long philtrum Micrognathia Patellar aplasia Triangular face

Autosomal recessive inheritance

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.

512
(70.5%)

Meier-Gorlin syndrome 2

Aplasia/Hypoplasia of the patella Micrognathia Narrow mouth Smooth philtrum

Autosomal recessive inheritance

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.

514
(70.5%)

Hirschsprung disease-type D brachydactyly syndrome

Aganglionic megacolon Short thumb

Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.

514
(70.5%)

curved nail of fourth toe

Hyperconvex fingernails Short distal phalanx of finger

Autosomal recessive inheritance

514
(70.5%)

congenital absence/hypoplasia of fingers excluding thumb, unilateral

Abnormality of the nail Adactyly Short thumb

Autosomal dominant inheritance

Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).

514
(70.5%)

brachydactyly-long thumb syndrome

Brachydactyly Short finger

Autosomal dominant inheritance

Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.

514
(70.5%)

Sugarman brachydactyly

Brachydactyly Short proximal phalanx of finger

Autosomal recessive inheritance

Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.

514
(70.5%)

syndactyly type 3

Absent middle phalanx of 5th finger Short 5th finger

Autosomal dominant inheritance

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.

514
(70.5%)

heart-hand syndrome type 3

Brachydactyly Short middle phalanx of finger

Autosomal dominant inheritance

Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.

514
(70.5%)

brachydactyly type A3

Clinodactyly of the 5th finger Short middle phalanx of the 5th finger

Autosomal dominant inheritance

514
(70.5%)

triphalangeal thumbs-brachyectrodactyly syndrome

Brachydactyly Short 2nd finger Short 3rd toe

Autosomal dominant inheritance

Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.

514
(70.5%)

osteodysplasty, precocious, of Danks, Mayne, and Kozlowski

Growth delay Short finger Short toe

Autosomal recessive inheritance

514
(70.5%)

brachydactyly type A4

Short middle phalanx of the 5th finger

Autosomal dominant inheritance

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.

514
(70.5%)

upper limb defect-eye and ear abnormalities syndrome

Cryptorchidism Short thumb

Autosomal recessive inheritance

Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.

514
(70.5%)

Fanconi anemia complementation group T

Short thumb Thrombocytopenia

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.

514
(70.5%)

Fanconi anemia complementation group J

Microphthalmia Short thumb

Autosomal recessive inheritance

Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.

514
(70.5%)

familial digital arthropathy-brachydactyly

Short distal phalanx of toe Short middle phalanx of finger

Autosomal dominant inheritance

Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.

514
(70.5%)

brachydactyly type A1D

Delayed speech and language development Short middle phalanx of the 5th finger

Autosomal dominant inheritance

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.

514
(70.5%)

brachydactyly type A1C

Brachydactyly Short middle phalanx of the 5th finger

Autosomal dominant inheritance Autosomal recessive inheritance

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.

514
(70.5%)

septooptic dysplasia

Optic nerve hypoplasia Short finger

Autosomal dominant inheritance Autosomal recessive inheritance

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

514
(70.5%)

osteochondrodysplasia, brachydactyly, and overlapping malformed digits

Pectus excavatum Short thumb

Autosomal recessive inheritance

514
(70.5%)

brachydactyly type A2

Hallux valgus Short middle phalanx of the 5th finger

Autosomal dominant inheritance

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

514
(70.5%)

optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive

Progressive sensorineural hearing impairment Short thumb

Autosomal recessive inheritance X-linked recessive inheritance

535
(70.4%)

pseudodiastrophic dysplasia

Malar flattening Micrognathia Phalangeal dislocation Rhizomelia Smooth philtrum

Autosomal recessive inheritance

Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.

536
(70.4%)

Rapp-Hodgkin syndrome

Absent lacrimal punctum Cleft upper lip Hypoplasia of the maxilla Syndactyly

Autosomal dominant inheritance

A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.

537
(70.3%)

Silver-Russell syndrome 1

Downturned corners of mouth Micrognathia Short middle phalanx of the 5th finger Triangular face

Autosomal dominant inheritance Sporadic

538
(70.3%)

retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Brachydactyly Broad thumb Thin upper lip vermilion Upslanted palpebral fissure

Autosomal recessive inheritance

539
(70.3%)

X-linked intellectual disability, Cabezas type

Mandibular prognathia Small hand Thick lower lip vermilion Wide mouth

X-linked recessive inheritance

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

540
(70.3%)

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Broad thumb Downslanted palpebral fissures Micrognathia Narrow palate

Autosomal dominant inheritance Sporadic

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.

540
(70.3%)

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Broad thumb Clinodactyly of the 5th finger Downslanted palpebral fissures High palate Micrognathia

Somatic mosaicism Autosomal dominant contiguous gene syndrome

Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.

540
(70.3%)

Rubinstein-Taybi syndrome due to CREBBP mutations

Broad thumb Epicanthus Micrognathia Narrow mouth Prominent fingertip pads

Autosomal dominant inheritance Heterogeneous Sporadic

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.

543
(70.3%)

Hallermann-Streiff syndrome

Abnormality of the hand Downslanted palpebral fissures Everted lower lip vermilion Metaphyseal widening Micrognathia

Sporadic

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.

544
(70.2%)

asphyxiating thoracic dystrophy 4

Brachydactyly Retinal degeneration Short long bone Short ribs

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

545
(70.2%)

SCARF syndrome

Epicanthus Long philtrum Short sternum

X-linked recessive inheritance

SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.

546
(70.2%)

2q37 microdeletion syndrome

Blepharophimosis Malar flattening Short metacarpal Short metatarsal Short toe

Autosomal dominant inheritance Somatic mutation

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

547
(70.2%)

fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

Abnormality of the hand Hand oligodactyly obsolete Shortening of the tibia

Autosomal dominant inheritance Sporadic

548
(70.2%)

Cornelia de Lange syndrome 4

Brachydactyly Microcephaly Thick eyebrow Thin upper lip vermilion

Autosomal dominant inheritance

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.

549
(70.2%)

radio-renal syndrome

Absent radius Absent thumb Ectopic kidney

Autosomal dominant inheritance

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.

549
(70.2%)

VACTERL with hydrocephalus

Absent thumb Radial club hand Renal hypoplasia

Autosomal recessive inheritance

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

549
(70.2%)

Fanconi anemia complementation group B

Absent radius Absent thumb Renal agenesis

X-linked recessive inheritance

Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.

552
(70.1%)

Singleton-Merten syndrome 1

Expanded phalanges with widened medullary cavities Hypoplasia of the maxilla Smooth philtrum

Autosomal dominant inheritance

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.

553
(70.1%)

spondylocarpotarsal synostosis syndrome

Bowed humerus Brachydactyly Cleft palate Hypoplasia of the odontoid process

Autosomal recessive inheritance

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

554
(70.1%)

WT limb-blood syndrome

Micrognathia Radioulnar synostosis Retrognathia Short thumb

Autosomal dominant inheritance

WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.

555
(70.1%)

osteogenesis imperfecta type 13

Arachnodactyly Dislocated radial head Long eyelashes Long philtrum Wormian bones

Autosomal recessive inheritance

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.

556
(70.1%)

asphyxiating thoracic dystrophy 5

Brachydactyly Rhizomelia Short foot Thin upper lip vermilion

Autosomal recessive inheritance

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.

556
(70.1%)

geleophysic dysplasia 3

Brachydactyly Limb undergrowth Long philtrum Round face Short foot

Autosomal dominant inheritance

558
(70.0%)

ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

Aplasia/Hypoplasia of the distal phalanges of the toes Downslanted palpebral fissures Submucous cleft hard palate

Autosomal dominant inheritance

This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.

559
(70.0%)

odontotrichomelic syndrome

Cleft upper lip Nasolacrimal duct obstruction Tetraamelia

Autosomal recessive inheritance

Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.

560
(70.0%)

spondyloepimetaphyseal dysplasia, Shohat type

Micromelia Short femoral neck Short ribs Thin vermilion border

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

561
(70.0%)

Hartsfield-Bixler-Demyer syndrome

Cleft upper lip Epicanthus Hypoplasia of the frontal bone Syndactyly

Autosomal dominant inheritance

562
(69.9%)

acromesomelic dysplasia, Maroteaux type

Frontal bossing Hypoplasia of the radius Short metacarpal Short toe

Autosomal recessive inheritance

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.

563
(69.9%)

blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Blepharophimosis Cutaneous finger syndactyly Mandibular prognathia Thick lower lip vermilion

Autosomal recessive inheritance

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.

564
(69.9%)

fine-Lubinsky syndrome

Brachydactyly Downslanted palpebral fissures Malar flattening Tapered finger Thin upper lip vermilion

Autosomal recessive inheritance Sporadic

Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.

565
(69.9%)

Armfield syndrome

Abnormal hand morphology Cleft palate Short foot Small hand

X-linked inheritance X-linked recessive inheritance

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

566
(69.9%)

intellectual developmental disorder with hypertelorism and distinctive facies

Long palpebral fissure Long philtrum Narrow jaw Tapered finger

Autosomal dominant inheritance

566
(69.9%)

PEHO syndrome

Epicanthus Retrognathia Tapered finger Tented upper lip vermilion

Autosomal recessive inheritance

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

566
(69.9%)

alpha thalassemia-intellectual disability syndrome type 1

Epicanthus Long philtrum Radial deviation of finger Retrognathia

Autosomal dominant inheritance Contiguous gene syndrome

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

566
(69.9%)

intellectual disability, Buenos-Aires type

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

Autosomal recessive inheritance

Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.

566
(69.9%)

8q22.1 microdeletion syndrome

Blepharophimosis Retrognathia Tapered finger Thin upper lip vermilion

Autosomal dominant inheritance Autosomal recessive inheritance Sporadic

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.

566
(69.9%)

blepharophimosis - intellectual disability syndrome, Verloes type

Adducted thumb Retrognathia Smooth philtrum Telecanthus

Autosomal recessive inheritance

566
(69.9%)

Rienhoff syndrome

Arachnodactyly Downslanted palpebral fissures Retrognathia Smooth philtrum

Autosomal dominant inheritance

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.

566
(69.9%)

chromosome 2p16.1-p15 deletion syndrome

Arachnodactyly Epicanthus Retrognathia Thin upper lip vermilion

Sporadic

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

566
(69.9%)

freeman-Sheldon syndrome

Adducted thumb Epicanthus Long philtrum Mandibular prognathia

Autosomal dominant inheritance

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

575
(69.9%)

RAB23-related Carpenter syndrome

Aplasia/Hypoplasia of the middle phalanges of the toes Brachydactyly Epicanthus High palate Micrognathia

Autosomal recessive inheritance

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.

576
(69.9%)

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Blepharitis Cleft upper lip Hypoplasia of the maxilla Split hand

Autosomal dominant inheritance

Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.

577
(69.7%)

Barber-Say syndrome

Micrognathia Telecanthus Thin vermilion border

Autosomal dominant inheritance

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

577
(69.7%)

deafness-intellectual disability, Martin-Probst type syndrome

Epicanthus Micrognathia Thick lower lip vermilion

X-linked recessive inheritance

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

577
(69.7%)

gapo syndrome

Micrognathia Sparse eyelashes Thick lower lip vermilion

Autosomal recessive inheritance

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

580
(69.6%)

tricho-retino-dento-digital syndrome

Oligodontia Short metacarpal Short proximal phalanx of finger Short toe

Autosomal dominant inheritance

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.

580
(69.6%)

spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Dental malocclusion Rhizomelia Short finger Short metacarpal

Autosomal recessive inheritance

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

582
(69.6%)

Xq27.3q28 duplication syndrome

Short foot Small hand Thin vermilion border

X-linked recessive inheritance

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

582
(69.6%)

developmental and epileptic encephalopathy, 2

Short foot Short palm Thick lower lip vermilion

X-linked dominant inheritance

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.

584
(69.6%)

MGAT2-CDG

Downslanted palpebral fissures Everted lower lip vermilion Proximal placement of thumb Retrognathia Slender long bone

Autosomal recessive inheritance

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

585
(69.5%)

humerus trochlea aplasia

Cleft palate Short humerus

Autosomal dominant inheritance

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.

586
(69.5%)

Meier-Gorlin syndrome 4

Micrognathia Narrow mouth Patellar aplasia Thick lower lip vermilion

Autosomal recessive inheritance

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.

587
(69.5%)

cartilage-hair hypoplasia

Hypoplasia of the odontoid process Short palm Sparse and thin eyebrow Sparse eyelashes

Autosomal recessive inheritance

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

588
(69.4%)

Sotos syndrome 1

Downslanted palpebral fissures Genu valgum High, narrow palate Large hands Mandibular prognathia

Autosomal dominant inheritance Sporadic

Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.

589
(69.4%)

pseudoleprechaunism syndrome, Patterson type

Hypoplasia of the odontoid process Large hands Prominent nose Short long bone

Sporadic

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

590
(69.4%)

intellectual developmental disorder with cardiac defects and dysmorphic facies

Macrocephaly Overlapping fingers Synophrys Thin upper lip vermilion

Autosomal recessive inheritance

591
(69.4%)

Shprintzen-Goldberg syndrome

Arachnodactyly Dislocated radial head Downslanted palpebral fissures Micrognathia Narrow palate

Autosomal dominant inheritance Sporadic

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

592
(69.4%)

Rothmund-Thomson syndrome type 2

Delayed eruption of teeth Forearm reduction defects Mandibular prognathia Short thumb

Autosomal recessive inheritance

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

593
(69.3%)

Skraban-Deardorff syndrome

Micrognathia Sparse lateral eyebrow Thick upper lip vermilion

Autosomal dominant inheritance

594
(69.3%)

Ehlers-Danlos syndrome, progeroid type 1

Arachnodactyly Cleft palate Narrow mouth Radioulnar synostosis Short clavicles

Autosomal recessive inheritance

595
(69.3%)

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

High palate Micrognathia Short long bone Short metacarpal

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

596
(69.3%)

Nestor-Guillermo progeria syndrome

Abnormality of the forearm Dental crowding Micrognathia Osteolytic defects of the distal phalanges of the hand Sparse eyelashes

Autosomal recessive inheritance

597
(69.3%)

chromosome 17p13.1 deletion syndrome

Epicanthus High palate Short foot Short palm

Autosomal dominant inheritance Contiguous gene syndrome

598
(69.3%)

hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Brachydactyly Epicanthus High palate Mandibular prognathia

Autosomal dominant inheritance X-linked dominant inheritance

This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.

599
(69.2%)

Mietens syndrome

Forearm undergrowth Narrow nose

Autosomal recessive inheritance

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.

600
(69.2%)

hydrops fetalis, nonimmune, with gracile bones and dysmorphic features

Anteverted nares Upper limb undergrowth

Autosomal recessive inheritance