ODCs

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Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

1 OMIM reference -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Hartsfield-Bixler-Demyer syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Hartsfield-Bixler-Demyer syndrome

AKT3	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
PIK3R2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3R2	(0.55)	FGFR1

Citations in the biomedical literature:

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Hartsfield-Bixler-Demyer syndrome
	Synonym(s): - MPPH syndrome		Synonym(s): - Holoprosencephaly - ectrodactyly - cleft lip palate

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Depressed nasal bridge - Hypertelorism - Telecanthus / canthal dystopy

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Hartsfield-Bixler-Demyer syndrome
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Ectopic / horseshoe / fused kidneys - High forehead - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Ventricular septal defect / interventricular communication		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Craniostenosis / craniosynostosis / sutural synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Intrauterine growth retardation - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Oligodactyly / ectrodactyly of fingers - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Stillbirth / neonatal death Frequent - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Trident hand / split hand / abnormal median ray