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acrocapitofemoral dysplasia
acrocardiofacial syndrome
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
acromesomelic dysplasia +
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
asphyxiating thoracic dystrophy +
Bifid Femur with Monodactylous Ectrodactyly
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
calvarial doughnut lesions with bone fragility
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
Camurati-Engelmann disease +
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Chitayat Meunier Hodgkinson Syndrome
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
Cleft Palate, Deafness, and Oligodontia
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
cold-induced sweating syndrome +
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Complex Camptosynpolydactyly
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital vertical talus
Cranioacrofacial Syndrome
Craniosynostosis, Adelaide Type
Czech Dysplasia, Metatarsal Type
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
diaphyseal medullary stenosis with malignant fibrous histiocytoma
distal arthrogryposis type 1 +
distal arthrogryposis type 3
Dwarfism Stiff Joint Ocular Abnormalities
Dyschondrosteosis and Nephritis
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
Ehlers-Danlos syndrome spondylodysplastic type 3
Ellis-Van Creveld syndrome +
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Extensor Tendons of Fingers, Anomalous Insertion of
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Familial Osteodysplasia, Anderson Type
Faye-Petersen Ward Carey Syndrome
Fibrous Dysplasia of Bone +
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Ghosal hematodiaphyseal syndrome
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
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Hyperostosis Frontalis Interna
hypertrichotic osteochondrodysplasia Cantu type
hypomyelinating leukodystrophy 26
hypoparathyroidism-retardation-dysmorphism syndrome
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Jequier Kozlowski Skeletal Dysplasia
Kozlowski Tsuruta Taki Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Mammary-Digital-Nail Syndrome
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Camera Type
Mesomelic Dysplasia, Savarirayan Type
Metaphyseal Acroscyphodysplasia
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Miura type epiphyseal chondrodysplasia
Mononen-Karnes-Senac syndrome
Monophalangy of Great Toe
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple epiphyseal dysplasia +
Neurofaciodigitorenal Syndrome
Nicolaides-Baraitser syndrome
oculodentodigital dysplasia +
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Pfeiffer Tietze Welte Syndrome
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Preaxial Polydactyly II +
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
Progeroid Facial Appearance with Hand Anomalies
progressive pseudorheumatoid arthropathy of childhood
Pseudotrisomy 13 Syndrome
Radial Defect Robin Sequence
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Ray Peterson Scott Syndrome
Rhizomelic Dysplasia Patterson Lowry Type
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Rozin Hertz Goodman Syndrome
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Say Field Coldwell Syndrome
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Second Metatarsal-Metacarpal Syndrome
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Slipped Capital Femoral Epiphyses
Spinal Dysplasia, Anhalt Type
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stoll Alembik Dott Syndrome
Stuve-Wiedemann Syndrome +
Symphalangism with Multiple Anomalies of Hands and Feet
Symphalangism, C. S. Lewis Type
syndromic microphthalmia 8
Synpolydactyly with Foot Anomalies
tarsal-carpal coalition syndrome +
Teebi hypertelorism syndrome +
Teebi Naguib Al Awadi syndrome
Tel Hashomer Camptodactyly Syndrome
terminal osseous dysplasia
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Tollner Horst Manzke Syndrome
Tracheobronchopathia Osteoplastica
Trichorhinophalangeal Syndrome +
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walbaum Titran Durieux Crepin Syndrome
Weissenbacher-Zweymuller syndrome +
Weyers Ulnar Ray/Oligodactyly Syndrome
Wolcott-Rallison syndrome
Zimmerman Laband Syndrome +
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