ODCs

Click node...

Seckel syndrome

6 OMIM references -
6 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

Seckel syndrome

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

ATR	(UniProt - OMIM)	HDAC6	(UniProt - OMIM)
ATRIP	(UniProt - OMIM)
CENPJ	(UniProt - OMIM)
CEP152	(UniProt - OMIM)
PCNT	(UniProt - OMIM)
RBBP8	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CENPJ	(0.63)	HDAC6

Citations in the biomedical literature:

Seckel syndrome		X-linked dominant chondrodysplasia, Chassaing-Lacombe type
	Synonym(s): (no synonyms)		Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant

	External references: 6 OMIM references - 1 MeSH reference: C537533		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Micrognathia / retrognathia / micrognathism / retrognathism - Short stature / dwarfism / nanism

Seckel syndrome		X-linked dominant chondrodysplasia, Chassaing-Lacombe type
	Very frequent - Abnormal / absent ossification - Autosomal recessive inheritance - Beaked nose - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Microcephaly - Narrow face - Premature ageing - Small / hypoplastic / adherent / absent ear lobe - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Frequent - Anodontia / oligodontia / hypodontia - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Scoliosis		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Short philtrum