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Ontology Browser
Term:
X-linked dominant chondrodysplasia punctata (EFO:Orphanet:35173)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
3M syndrome 
Achondrogenesis type 1A 
Achondrogenesis type 1B 
Achondrogenesis type 2 
Acromesomelic dysplasia, Grebe type 
Acromesomelic dysplasia, Hunter-Thomson type 
Acromesomelic dysplasia, Maroteaux type 
Albers-Schönberg osteopetrosis 
Albright hereditary osteodystrophy 
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 
Autosomal dominant Larsen syndrome 
Autosomal dominant osteopetrosis type 1 
Autosomal recessive malignant osteopetrosis 
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 
Blomstrand lethal chondrodysplasia 
Brachydactyly type A6 
CHILD syndrome 
CHST3-related skeletal dysplasia 
Cleidocranial dysplasia and isolated cranial ossification defect +  
Dacryocystitis - osteopoikilosis 
Desbuquois syndrome 
Disorder of bile acid synthesis +  
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +  
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement +  
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +  
Dyschondrosteosis - nephritis 
Ear-patella-short stature syndrome 
Ellis Van Creveld syndrome 
Endosteal sclerosis - cerebellar hypoplasia 
Exostoses - anetodermia - brachydactyly type E 
glycosylphosphatidylinositol biosynthesis defect 21 
Intellectual disability - balding - patella luxation - acromicria 
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 
Intermediate osteopetrosis 
Langer-Giedion syndrome 
Larsen-like osseous dysplasia - short stature 
Leukocyte adhesion deficiency type III 
Léri-Weill dyschondrosteosis 
Mesomelic dwarfism - cleft palate - camptodactyly 
Metaphyseal chondrodysplasia - retinitis pigmentosa 
Metaphyseal chondrodysplasia, Schmid type 
Metaphyseal dysostosis - intellectual disability - conductive deafness 
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty 
Microcephalic primordial dwarfism, Dauber type 
Micromelic dwarfism, Fryns type 
Multiple non-ossifying fibromatosis 
Nasu-Hakola disease 
Nodulosis-arthropathy-osteolysis syndrome 
Orofaciodigital syndrome type 4 
Osteopathia striata - cranial sclerosis 
Osteopathia striata - pigmentary dermopathy - white forelock 
Osteopetrosis - hypogammaglobulinemia 
Osteopetrosis with renal tubular acidosis 
Osteosclerosis - ichthyosis - premature ovarian failure 
Pachydermoperiostosis 
Primary bone dysplasia with decreased bone density +  
Primary bone dysplasia with defective bone mineralization +  
Primary bone dysplasia with micromelia +  
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 
Rare dyslipidemia +   
Reunion Island's Larsen syndrome 
Short rib-polydactyly syndrome, Beemer-Langer type 
Short rib-polydactyly syndrome, Verma-Naumoff type 
Skeletal dysplasia - intellectual disability 
Spastic paraplegia - Paget disease of bone 
Spondylocarpotarsal synostosis 
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia +  
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism 
Spondylometaphyseal dysplasia - cone-rod dystrophy 
Steinert myotonic dystrophy 
syndromic recessive X-linked ichthyosis 
Terminal osseous dysplasia - pigmentary defects 
Thin ribs - tubular bones - dysmorphism 
Torg-Winchester syndrome 
Trichorhinophalangeal syndrome type 1 and 3 
X-linked dominant chondrodysplasia punctata 
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

Synonyms
Exact Synonyms: CDPX2 ;   CDPXD ;   CPXD ;   Chondrodystrophia calcificans congenita ;   Conradi-Hünermann-Happle syndrome ;   X-linked chondrodysplasia punctata type 2
Xrefs: ICD10:Q77.3 ;   MIM:302960 ;   UMLS:C0263627 ;   UMLS:C0282102

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