ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Craniosynostosis, Boston type

Familial partial lipodystrophy associated with PPARG mutations


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MSX2	(0.63)	PPARG

Citations in the biomedical literature:

Craniosynostosis, Boston type		Familial partial lipodystrophy associated with PPARG mutations
	Synonym(s): - Craniosynostosis, Warman type - Warman-Mulliken-Hayward syndrome		Synonym(s): - FPLD3 - Familial partial lipodystrophy type 3

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood 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	- Autosomal dominant inheritance

Craniosynostosis, Boston type		Familial partial lipodystrophy associated with PPARG mutations
	Very frequent - Basilary impression / invagination / cranio-spinal malformation / platybasia - Craniostenosis / craniosynostosis / sutural synostosis - Flat supraorbital ridge Frequent - Frontal bossing / prominent forehead - Myopia - Turricephaly / oxycephaly / acrocephaly Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Fingerlike / triphalangeal thumb - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Abnormal fat distribution / lipodystrophy - Chronic arterial hypertension - Diabetes mellitus - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea Frequent - Acanthosis nigricans - Hyperuricemia - Liver / hepatic steatosis Occasional - Abnormal / polycystic ovaries - Angor pectoris / myocardial infarction - Cirrhosis - Hirsutism / hypertrichosis / Increased body hair - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia