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acrocardiofacial syndrome
acrofacial dysostosis Rodriguez type
acrofacial dysostosis, Patagonia type
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Angel Shaped Phalangoepiphyseal Dysplasia
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
Baby Rattle Pelvis Dysplasia
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Bifid Femur with Monodactylous Ectrodactyly
Brachymesomelia Renal 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
Carnevale Hernandez Castillo Syndrome
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
Cervical Vertebral Dysplasia
Chitayat Meunier Hodgkinson Syndrome
cold-induced sweating syndrome +
Complex Camptosynpolydactyly
Conductive Deafness with Ptosis and Skeletal Anomalies
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Cranioacrofacial Syndrome
craniolenticulosutural dysplasia
Craniosynostosis, Adelaide Type
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Tall Stature
distal arthrogryposis type 1 +
distal arthrogryposis type 3
Dwarfism Stiff Joint Ocular Abnormalities
Dysplasia Epiphysealis Hemimelica +
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
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
Fryns Hofkens Fabry Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Growth Mental Deficiency Syndrome of Myhre
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Heart-Hand Syndrome, Slovenian Type
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Kantaputra Gorlin Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
Mammary-Digital-Nail Syndrome
mandibuloacral dysplasia +
Membranous Cranial Ossification, Delayed
Mesomelic Limb Shortening and Bowing
Metaphyseal Acroscyphodysplasia
Microcephaly with Mental Retardation and Digital Anomalies
Miura type epiphyseal chondrodysplasia
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Muller Barth Menger Syndrome
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
otopalatodigital syndrome spectrum disorder +
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Pfeiffer Tietze Welte Syndrome
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Progeroid Facial Appearance with Hand Anomalies
Pseudotrisomy 13 Syndrome
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radius Absent Anogenital Anomalies
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Roifman-Chitayat Syndrome
Rozin Hertz Goodman Syndrome
Sanderson Fraser Syndrome
Say Field Coldwell Syndrome
Schinzel Giedion syndrome
Second Metatarsal-Metacarpal Syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
SHOX-related short stature
Shwachman-Diamond Syndrome 2
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
Split Hand, Split Foot, Nystagmus
split hand-foot malformation +
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort 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
Trichoodontoonychial Dysplasia
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Ulnar Hypoplasia with Mental Retardation
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Ventricular Extrasystoles Perodactyly Robin Sequence
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Walbaum Titran Durieux Crepin Syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Wiedemann Oldigs Oppermann Syndrome
Zimmerman Laband Syndrome +
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