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46,XX ovotesticular disorder of sex development

1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Campomelic dysplasia

3 OMIM references -
1 associated gene
38 signs/symptoms

46,XX ovotesticular disorder of sex development

Campomelic dysplasia

SOX9	(UniProt - OMIM)		SOX9	(UniProt - OMIM)
SRY	(UniProt - OMIM)


COMMON GENES	SOX9

Citations in the biomedical literature:

46,XX ovotesticular disorder of sex development		Campomelic dysplasia
	Synonym(s): - 46,XX ovotesticular DSD - True hermaphroditism		Synonym(s): - Campomelic dwarfism

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D050090		External references: 3 OMIM references - 1 MeSH reference: D055036


COMMON SIGNS	- Ambiguous genitalia

46,XX ovotesticular disorder of sex development		Campomelic dysplasia
	Very frequent - Abnormal / polycystic ovaries - Bifid scrotum - Horizontal folds on scrotum - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypospadias / epispadias / bent penis - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Micropenis / small penis / agenesis - Sterility / hypofertility - True hermaphrodism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus - Uterine / uterus / Fallopian tubes anomalies Occasional - Chromosomal or genetic anomaly		Very frequent - Autosomal dominant inheritance - Bone / osseous hypoplasia - Bowed diaphysis / diaphyses / long bones - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Lack / delayed ossification of spine / vertebrae - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Short neck - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Tracheomalacia / tracheobronchomalacia Frequent - Dermoid sinus / dimple / pit (excluding sacral) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hypertelorism - Low set ears / posteriorly rotated ears - Male pseudohermaphrodism / lack of virilisation - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Talipes-varus / metatarsal varus Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Depressed nasal bridge - Dilated cerebral ventricles without hydrocephaly - Hearing loss / hypoacusia / deafness - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome