Campomelic Dysplasia

• Aarskog syndrome

• Aase syndrome

• Aase-Smith syndrome

• Achondrogenesis, types I and II

• Acrocallosal syndrome

• Acro-fronto-facio-nasal dysostosis syndrome

• Adams-Oliver syndrome

• Adducted thumbs syndrome

• Aicardi syndrome

• Aminopterin/methotrexate embryopathy

• Amniotic band sequence

• Apert syndrome

• Atelosteogenesis

Bardet-Biedl syndrome

Bencze syndrome

Branchio-oculo-facial syndrome

Campomelic dysplasia

Catel-Manzke syndrome

Caudal dysplasia sequence

CHARGE association

CHILD syndrome

Chondroectodermal dysplasia

Chromosomal deletion syndromes (4p-, 4q-, 5p-)

Chromosomal duplication syndromes (4p+, 9p+)

Chromosomal trisomy syndromes (13,18)

Cleft lip/palate sequence

Cleidocranial dysplasia

Craniofrontonasal dysplasia

Craniosynostosis-radial/fibular aplasia-cleft lip/

palate syndrome

Crouzon syndrome

De Lange syndrome

Diastrophic dysplasia

Distal arthrogryposis syndrome

Dubowitz syndrome

Dyssegmental dwarfism

EEC syndrome

Femorofacial syndrome

Fetal alcohol syndrome

Fetal hydantoin syndrome

Fetal trimethadione syndrome

Fetal valproate syndrome

FG syndrome

Focal dermal hypoplasia syndrome

(Goltz-Gorlin syndrome)

Fraser syndrome

Frontonasal dysplasia

Fryns syndrome

Goldenhar syndrome

Gordon syndrome

Hay-Wells syndrome of ectodermal dysplasia



Hyperthermia-induced spectrum of defects


Hypoglossia-hypodactylia syndrome

Hypomelanosis of Ito

Juberg-Hayward syndrome

Kabuki syndrome

Kallmann syndrome, type II

Kniest dysplasia

Larsen syndrome

Limb-body wall complex

Marden-Walker syndrome

Marfan syndrome

Maternal PKU fetal effects

• Meckel-Gruber syndrome

• Miller syndrome

• Mohr syndrome

• MURCS association

• Nager syndrome

• Neu-Laxova syndrome

• Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

• Oculo-auriculo-vertebral spectrum

• Oculo-dento-digital syndrome

• Oculo-palato-skeletal dysplasia

• Opitz syndrome

• Oro-facial-digital syndromes, types I and II

• Oromandibular-limb hypogenesis syndrome

• Osteopathia striata with cranial sclerosis

• Oto-palato-digital syndromes, types I and II

• Oto-spondylo-megaepiphyseal dysplasia

• Pallister-Hall syndrome

• Peters plus syndrome

• Popliteal pterygium syndrome

• Pseudodiastrophic dysplasia

• Rapp-Hodgkin ectodermal dysplasia syndrome

• Roberts SC phocomelia syndrome

• Robin sequence

• Robinow syndrome

• Seckel syndrome

• Short rib-polydactyly syndromes, types II and III

• Simpson-Golabi-Behmel syndrome

• Smith-Lemli-Opitz syndrome

• Spondyloepimetaphyseal dysplasia with joint laxity

• Spondyloepimetaphyseal dysplasia, Strudwick type

• Spondyloepiphyseal dysplasia congenita

• Sternal malformation-vascular dysplasia spectrum

• Stickler syndrome

• Treacher-Collins syndrome

• Triploidy syndrome

• Van der Woude syndrome

• Waardenburg syndrome

• Walker-Warburg syndrome

• XXXXY syndrome

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