ODCs

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Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 15

Marshall-Smith syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

Shprintzen-Goldberg syndrome

Marshall-Smith syndrome

FBN1	(UniProt - OMIM)		NFIX	(UniProt - OMIM)
SKI	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SKI	(0.75)	NFIX

Citations in the biomedical literature:

Shprintzen-Goldberg syndrome		Marshall-Smith syndrome
	Synonym(s): - Marfanoid craniosynostosis syndrome - SGS		Synonym(s): - Accelerated skeletal maturation - peculiar facies - failure to thrive

	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 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: 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 - 1 MeSH reference: C537328		External references: 1 OMIM reference - 1 MeSH reference: C536026


COMMON SIGNS	- Anteverted nares / nostrils - Bowed diaphysis / diaphyses / long bones - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Proptosis / exophthalmos - Scoliosis

Shprintzen-Goldberg syndrome		Marshall-Smith syndrome
	Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat foot - High vaulted / narrow palate - Hypotonia - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Marfanoid morphotype - Telecanthus / canthal dystopy Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Camptodactyly of some fingers - Communicating hydrocephaly - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - High forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Inguinal / inguinoscrotal / crural hernia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pectus carinatum - Pectus excavatum - Ptosis - Strabismus / squint - Talipes-varus / metatarsal varus - Umbilical hernia Occasional - Abnormal vertebral size / shape - Absent / hypotonic / flaccid abdominal wall muscles - Apnea / sleep apnea - Arnold-Chiari anomaly - Autosomal dominant inheritance - Elbow dislocation - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu valgum - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Microcephaly - Myopia - Narrow rib cage / thorax - Prominent / bat ears - Restricted joint mobility / joint stiffness / ankylosis - Rib number anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Advanced bone age - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thin skin Frequent - Blue sclerae - Death in infancy - Ecchymoses - Hirsutism / hypertrichosis / Increased body hair - Laryngomalacia - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mouth held open - Mutiple fractures / bone fragility - Short / small nose - Stillbirth / neonatal death Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Congenital cardiac anomaly / malformation / cardiopathy - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Thickened / hypertrophic / fibromatous gingivae