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acrocardiofacial syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Bifid Femur with Monodactylous Ectrodactyly
bone development disease +
bone inflammation disease +
bone remodeling disease +
bone resorption disease +
Braddock Carey Syndrome +
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
Carey-Fineman-Ziter syndrome +
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Catel Manzke syndrome A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)
Chitayat Meunier Hodgkinson Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
cold-induced sweating syndrome +
Complex Camptosynpolydactyly
Cranioacrofacial Syndrome
Craniosynostosis, Adelaide Type
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
distal arthrogryposis type 1 +
distal arthrogryposis type 3
Dwarfism Stiff Joint Ocular Abnormalities
ectodermal dysplasia, ectrodactyly, and macular dystrophy 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
Endocrine Bone Diseases +
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
geroderma osteodysplasticum
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
hand-foot-genital syndrome
Heart-Hand Syndrome, Slovenian Type
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infectious Bone Diseases +
Mammary-Digital-Nail Syndrome
Metabolic Bone Diseases +
Metaphyseal Acroscyphodysplasia
Microcephaly with Mental Retardation and Digital Anomalies
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Myoectodermal Gonadal Dysgenesis Syndrome
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurofaciodigitorenal Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osteootohepatoenteric Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal dominant
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pfeiffer Tietze Welte Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies
Postaxial Polydactyly, with Dental and Vertebral Anomalies
primary hypertrophic osteoarthropathy +
Progeroid Facial Appearance with Hand Anomalies
Pseudotrisomy 13 Syndrome
Radial Defect Robin Sequence
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Rhizomelic Dysplasia Patterson Lowry Type
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Robin Sequence and Oligodactyly
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Rozin Hertz Goodman Syndrome
Sanderson Fraser Syndrome
Say Field Coldwell Syndrome
Schinzel Giedion syndrome
Sclerosing Bone Dysplasia, Mental Retardation
Second Metatarsal-Metacarpal 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
tarsal-carpal coalition syndrome +
Teebi hypertelorism syndrome +
Tel Hashomer Camptodactyly Syndrome
terminal osseous dysplasia
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Trochlea of the Humerus, Aplasia of
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 +
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