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Campomelic dysplasia
3 OMIM references -
1 associated gene
21 connected diseases
38 signs/symptoms
Disease Type of connection
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Blepharophimosis-intellectual deficit syndrome, MKB type
Cataract-microcornea syndrome
Cerulean cataract
FG syndrome type 1
Pulverulent cataract
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Melanoma of soft part
Synonym(s):
- Campomelic dwarfism
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 -
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:
3 OMIM references -
1 MeSH reference: D055036
Gene symbol UniProt reference OMIM reference
SOX9 P48436608160
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
- 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