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Familial scaphocephaly syndrome, McGillivray type

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

Familial scaphocephaly syndrome, McGillivray type

Limited cutaneous systemic sclerosis

FGFR2	(UniProt - OMIM)	CAV1	(UniProt - OMIM)
		CCR6	(UniProt - OMIM)
		CTGF	(UniProt - OMIM)
		HLA-DRB1	(UniProt - OMIM)
		IRF5	(UniProt - OMIM)
		KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR2	(0.14)	CTGF

Citations in the biomedical literature:

Familial scaphocephaly syndrome, McGillivray type		Limited cutaneous systemic sclerosis
	Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit		Synonym(s): - Limited cutaneous systemic scleroderma

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Familial scaphocephaly syndrome, McGillivray type		Limited cutaneous systemic sclerosis
	Very frequent - Autosomal dominant inheritance - High forehead - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dental malocclusion - Dolichocephaly / scaphocephaly - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface Occasional - Broad / bifid big toe - Dilated cerebral ventricles without hydrocephaly - Prognathism / prognathia - Syndactyly of toes - Trigonocephaly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Irregular / patchy skin hypopigmentation Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension