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Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Marshall-Smith syndrome
1 OMIM reference -
1 associated gene
36 signs/symptoms
Monosomy 13q14
Marshall-Smith syndrome

RB1
(UniProt - OMIM)
 NFIX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RB1
(0.72)
NFIX


Citations in the biomedical literature:


Monosomy 13q14
RB1
Marshall-Smith syndrome
NFIX



Monosomy 13q14
Marshall-Smith syndrome

Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Synonym(s):
- Accelerated skeletal maturation - peculiar facies - failure to thrive
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- 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:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536026
COMMON
SIGNS 		- Congenital cardiac anomaly / malformation / cardiopathy
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism

Monosomy 13q14
Marshall-Smith syndrome

Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Intrauterine growth retardation
- Microcephaly
- Short stature / dwarfism / nanism
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Coloboma of iris
- 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


Very frequent
- Advanced bone age
- Anteverted nares / nostrils
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thin skin

Frequent
- Blue sclerae
- Conductive deafness / hearing loss
- Death in infancy
- Ecchymoses
- Hirsutism / hypertrichosis / Increased body hair
- Laryngomalacia
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mouth held open
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Scoliosis
- Short / small nose
- Stillbirth / neonatal death

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Craniostenosis / craniosynostosis / sutural synostosis
- Dilated cerebral ventricles without hydrocephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Thickened / hypertrophic / fibromatous gingivae