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X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Campomelic dysplasia

3 OMIM references -
1 associated gene
38 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

Campomelic dysplasia

MED12	(UniProt - OMIM)	SOX9	(UniProt - OMIM)
UPF3B	(UniProt - OMIM)
ZDHHC9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED12	(0.79)	SOX9

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		Campomelic dysplasia
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - Campomelic dwarfism

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked 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: 2 OMIM references - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D055036


COMMON SIGNS	- Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis

X-linked intellectual deficit with marfanoid habitus		Campomelic dysplasia
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - High vaulted / narrow palate - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Marfanoid morphotype - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Corpus callosum / septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow face - Pectus excavatum - Short philtrum Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Brachycephaly / flat occiput - Camptodactyly of some fingers - Delirium / hallucination - Prominent / bat ears - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly		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 - 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 - 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 - 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