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Seckel syndrome
6 OMIM references -
6 associated genes
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
Seckel syndrome
Monosomy 13q14

ATR
(UniProt - OMIM)
 RB1
(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)
RBBP8
(0.87)
RB1


Citations in the biomedical literature:


Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8

Monosomy 13q14
RB1



Seckel syndrome
Monosomy 13q14

Synonym(s):
(no synonyms)

Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
6 OMIM references -
1 MeSH reference: C537533
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Clinodactyly of fifth finger
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism

Seckel syndrome
Monosomy 13q14

Very frequent
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Beaked nose
- Craniostenosis / craniosynostosis / sutural synostosis
- 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
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypotonia
- Low set ears / posteriorly rotated ears
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short hand / brachydactyly
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli