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Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 19

2 OMIM references -
2 associated genes
47 signs/symptoms

Shprintzen-Goldberg syndrome

Sotos syndrome

FBN1	(UniProt - OMIM)		NFIX	(UniProt - OMIM)
SKI	(UniProt - OMIM)		NSD1	(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		Sotos syndrome
	Synonym(s): - Marfanoid craniosynostosis syndrome - SGS		Synonym(s): - Cerebral gigantism

	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 - Rare oncologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537328		External references: 2 OMIM references - 1 MeSH reference: D058495


COMMON SIGNS	- Anteverted nares / nostrils - Autosomal dominant inheritance - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Dilated cerebral ventricles without hydrocephaly - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Genu valgum - High forehead - High vaulted / narrow palate - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes

Shprintzen-Goldberg syndrome		Sotos syndrome
	Very frequent - Flat foot - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Marfanoid morphotype - Proptosis / exophthalmos - 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 - 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 - Ptosis - Talipes-varus / metatarsal varus - Umbilical hernia Occasional - Abnormal vertebral size / shape - Absent / hypotonic / flaccid abdominal wall muscles - Apnea / sleep apnea - Arnold-Chiari anomaly - Bowed diaphysis / diaphyses / long bones - Elbow dislocation - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperelastic skin / cutaneous hyperlaxity - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Microcephaly - Myopia - Narrow rib cage / thorax - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Prominent / bat ears - Restricted joint mobility / joint stiffness / ankylosis - Rib number anomalies		Very frequent - Advanced bone age - Flattened nose - Long / large ear - Macrocephaly / macrocrania / megalocephaly / megacephaly - Prognathism / prognathia - Tall stature / gigantism / growth acceleration Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Generalized obesity - Hypoglycemia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Precocious puberty - Premature eruption of teeth / natal teeth Occasional - Abnormal fingernails - Cardiac septal defect - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Coarse face - EEG anomalies - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypereflexia - Hypospadias / epispadias / bent penis - Neoplasms / tumors - Patent ductus arteriosus - Polycystic kidneys - Psychic / behavioural troubles - Sacrococcygeal teratoma - Seizures / epilepsy / absences / spasms / status epilepticus - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter