|
|
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Alves Castelo dos Santos Syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome Guadalajara Type +
Camptodactyly Vertebral Fusion
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptosynpolydactyly, Complex
cardiofaciocutaneous syndrome +
Carnevale Hernandez Castillo Syndrome
cartilage-hair hypoplasia
Cerebellar Ataxia Ectodermal Dysplasia
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Chitayat Meunier Hodgkinson Syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
Cleft Palate, Deafness, and Oligodontia
cold-induced sweating syndrome +
Congenital Ectodermal Dysplasia with Hearing Loss
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
congenital vertical talus
Cranioacrofacial Syndrome
Craniosynostosis, Adelaide Type
Daneman Davy Mancer Syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness, Congenital Onychodystrophy, Recessive Form
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
distal arthrogryposis type 3
Dwarfism Stiff Joint Ocular Abnormalities
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Mental Retardation Syndactyly
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly-Cleft Palate Syndrome
Ellis-Van Creveld syndrome +
Euhidrotic Ectodermal Dysplasia
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Femur Bifid with Monodactylous Ectrodactyly
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
focal dermal hypoplasia +
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Halal Setton Wang Syndrome
hand-foot-genital syndrome
Hay Wells Syndrome Recessive Type
Heart-Hand Syndrome, Slovenian Type
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
hypohidrotic ectodermal dysplasia +
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Ladda Zonana Ramer syndrome
linear skin defects with multiple congenital anomalies 2
Mammary-Digital-Nail Syndrome
Metaphyseal Acroscyphodysplasia
Microcephaly with Mental Retardation and Digital Anomalies
Mononen-Karnes-Senac syndrome
Monophalangy of Great Toe
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
Neurofaciodigitorenal Syndrome
Nicolaides Baraitser Syndrome
nonsyndromic aplasia cutis congenita
oculodentodigital dysplasia +
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
otopalatodigital syndrome spectrum disorder +
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Patterson Stevenson Syndrome
Pfeiffer Tietze Welte Syndrome
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Progeroid Facial Appearance with Hand Anomalies
Pseudotrisomy 13 Syndrome
pure hair and nail ectodermal dysplasia +
Radial Defect Robin Sequence
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Ray Peterson Scott Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Robinson Miller Bensimon Syndrome
Rosselli-Gulienetti Syndrome
Rozin Hertz Goodman Syndrome
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Say Field Coldwell syndrome
scalp-ear-nipple syndrome
Schinzel-Giedion Syndrome
Schopf-Schulz-Passarge syndrome
Second Metatarsal-Metacarpal Syndrome
Seres-Santamaria Arimany Muniz Syndrome
Split Hand Split Foot Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Stoll Alembik Dott Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndromic microphthalmia 8
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Synpolydactyly with Foot Anomalies
tarsal-carpal coalition syndrome
Taurodontia Absent Teeth Sparse Hair
Tel Hashomer Camptodactyly Syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Tollner Horst Manzke Syndrome
Trichoodontoonychial Dysplasia
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Trueb Burg Bottani Syndrome
Ulnar Hypoplasia Lobster Claw Deformity of Feet
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Ventricular Extrasystoles Perodactyly Robin Sequence
Walbaum Titran Durieux Crepin Syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Zimmerman Laband Syndrome +
|
|
