ODCs

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Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

Shprintzen-Goldberg syndrome

Loeys-Dietz syndrome type 1

FBN1	(UniProt - OMIM)		TGFBR1	(UniProt - OMIM)
SKI	(UniProt - OMIM)		TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SKI	(0.68)	TGFBR1

Citations in the biomedical literature:

Shprintzen-Goldberg syndrome		Loeys-Dietz syndrome type 1
	Synonym(s): - Marfanoid craniosynostosis syndrome - SGS		Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic 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: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537328		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Flat foot - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus carinatum - Pectus excavatum - Scoliosis

Shprintzen-Goldberg syndrome		Loeys-Dietz syndrome type 1
	Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - 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 - Frontal bossing / prominent forehead - High forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Inguinal / inguinoscrotal / crural hernia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Ptosis - 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 - 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 - Microcephaly - Myopia - Narrow rib cage / thorax - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Prominent / bat ears - Restricted joint mobility / joint stiffness / ankylosis - Rib number anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - Palate anomalies - Patent ductus arteriosus - Uterine rupture Frequent - Abnormal scarring / cheloids / hypertrophic scars - Blue sclerae - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Striae - Tall stature / gigantism / growth acceleration Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Joint dislocation / subluxation - Thin skin