• Aarskog syndrome

• Acrorenal syndrome

• Aminopterin/methotrexate embryopathy

• Ankylosed teeth-clinodactyly

• Bardet-Biedl syndrome

• Bloom syndrome

Brachydactyly A1,A2, A3, C Brachydactyly syndrome/long thumb Campomelic dysplasia Carpenter syndrome Catel-Manzke syndrome Cephaloskeletal dysplasia (Taybi-Linder syndrome) Cerebro-costo-mandibular syndrome Char syndrome

Chromosomal aneuploidy syndromes (involving chromosome 13,18, and 21) Chromosome 4p- syndrome (Wolf) Cohen syndrome Cranio-fronto-nasal dysplasia Cranio-oro-digital syndrome Cri-du-chat syndrome De Lange syndrome DOOR syndrome Dubowitz syndrome Ear/patella/short stature syndrome EEC syndrome Ehlers-Danlos syndrome Facio-digito-genital syndrome, recessive Fanconi anemia Fetal alcohol syndrome Fibrochondrogenesis Fibrodysplasia ossificans progressiva Filippi syndrome

Focal dermal hypoplasia (Goltz-Gorlin syndrome)

Hand-foot-genital syndrome

Holt-Oram syndrome

Hypomelanosis of Ito


Kabuki syndrome

Keratosis palmaris et plantaris with clinodactyly

Kirner deformity

Klinefelter syndrome

Lacrimo-auriculo-dento-digital syndrome

LADD syndrome (Levy-Hollister)

Laurence-Moon-Biedl syndrome

Lenz microphthalmia syndrome

Lissencephaly (Miller-Dieker syndrome)

Marfan syndrome

Meckel syndrome

Mesomelic dysplasia, Nievergelt

Myotonic dystrophy (Steinert syndrome)

Nail-patella syndrome

Naso-digito-acoustic syndrome

Noonan syndrome

Oculo-dento-osseous dysplasia

Oculo-digito-esophago-duodenal syndrome

Oro-facio-digital syndrome, types I and II


• Oto-palato-digital syndrome, type 1

• Poland syndrome

• Popliteal pterygium syndrome

• Prader-Willi syndrome

• Pseudothalidomide syndrome

• Rieger syndrome

• Roberts syndrome

• Robinow syndrome

• Rubinstein-Taybi syndrome

• Ruvalcaba syndrome

• Saethre-Chotzen syndrome

• Seckel syndrome

• Sensenbrenner syndrome

• Shwachman syndrome

• Silver-Russel syndrome

• Symphalangism

• Talonavicular coalition

• Thermal and electrical burns

• Thrombocytopenia-absent radius (TAR) syndrome

• Treacher-Collins syndrome

• Tricho-rhino-phalangeal dysplasia, types 1 and 2

• Weaver syndrome

• Weill-Marchesani syndrome

• Williams syndrome

• Zellweger syndrome

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