ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Severe achondroplasia - developmental delay - acanthosis nigricans

Muenke syndrome

Citations in the biomedical literature:

Severe achondroplasia - developmental delay - acanthosis nigricans		Muenke syndrome
	Synonym(s): - SADDAN		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: childhood Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537369


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Severe achondroplasia - developmental delay - acanthosis nigricans		Muenke syndrome
	Very frequent - Anomalies of bones / skeletal anomalies - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Clavicle absent / abnormal - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly		Very frequent - Autosomal dominant inheritance Frequent - Brachycephaly / flat occiput - Carpal bones fusion / synostosis - Cone epiphyses / epiphysis - Cranial hypertension - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Plagiocephaly - Proptosis / exophthalmos - Ptosis - Sensorineural deafness / hearing loss - Short foot / brachydactyly of toes - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis Occasional - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly