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Campomelic dysplasia
3 OMIM references -
1 associated gene
38 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
Campomelic dysplasia
46,XY complete gonadal dysgenesis

SOX9
(UniProt - OMIM)
 CBX2
(UniProt - OMIM)
DHH
(UniProt - OMIM)
DMRT1
(UniProt - OMIM)
DMRT2
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX9
(0.86)
NR5A1


Citations in the biomedical literature:


Campomelic dysplasia
SOX9
46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY



Campomelic dysplasia
46,XY complete gonadal dysgenesis

Synonym(s):
- Campomelic dwarfism
Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
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 (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D055036
External references:
7 OMIM references -
No MeSH references
COMMON
SIGNS 		- Male pseudohermaphrodism / lack of virilisation

Campomelic dysplasia
46,XY complete gonadal dysgenesis

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
- Ambiguous genitalia
- Dermoid sinus / dimple / pit (excluding sacral)
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hypertelorism
- Low set ears / posteriorly rotated ears
- 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


Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance