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Shprintzen-Goldberg syndrome
1 OMIM reference -
2 associated genes
55 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
Shprintzen-Goldberg syndrome
Monosomy 13q14

FBN1
(UniProt - OMIM)
 RB1
(UniProt - OMIM)
SKI
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SKI
(0.63)
RB1


Citations in the biomedical literature:


Shprintzen-Goldberg syndrome
FBN1 SKI
Monosomy 13q14
RB1



Shprintzen-Goldberg syndrome
Monosomy 13q14

Synonym(s):
- Marfanoid craniosynostosis syndrome
- SGS
Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537328
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Ptosis

Shprintzen-Goldberg syndrome
Monosomy 13q14

Very frequent
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat foot
- High vaulted / narrow palate
- Long hand / arachnodactyly
- Marfanoid morphotype
- Proptosis / exophthalmos
- Telecanthus / canthal dystopy

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Camptodactyly of some fingers
- Communicating hydrocephaly
- Craniostenosis / craniosynostosis / sutural synostosis
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Frontal bossing / prominent forehead
- High forehead
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Inguinal / inguinoscrotal / crural hernia
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Scoliosis
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Umbilical hernia

Occasional
- Abnormal vertebral size / shape
- Absent / hypotonic / flaccid abdominal wall muscles
- Anteverted nares / nostrils
- Apnea / sleep apnea
- Arnold-Chiari anomaly
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu valgum
- Hyperelastic skin / cutaneous hyperlaxity
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Myopia
- Narrow rib cage / thorax
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Rib number anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Intrauterine growth retardation
- 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
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- 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