ODCs

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Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Congenital contractural arachnodactyly

1 OMIM reference -
1 associated gene
21 signs/symptoms

Shprintzen-Goldberg syndrome

Congenital contractural arachnodactyly

FBN1	(UniProt - OMIM)		FBN2	(UniProt - OMIM)
SKI	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1	(0.62)	FBN2

Citations in the biomedical literature:

Shprintzen-Goldberg syndrome		Congenital contractural arachnodactyly
	Synonym(s): - Marfanoid craniosynostosis syndrome - SGS		Synonym(s): - Beals syndrome - Beals-Hecht syndrome - CCA syndrome - Distal arthrogryposis type 9

	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 - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537328		External references: 1 OMIM reference - 1 MeSH reference: C536211


COMMON SIGNS	- Autosomal dominant inheritance - High vaulted / narrow palate - Long hand / arachnodactyly - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis

Shprintzen-Goldberg syndrome		Congenital contractural arachnodactyly
	Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat foot - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - 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 - Pectus carinatum - Pectus excavatum - 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 - Rib number anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Arthrogryposis - Camptodactyly of fingers - Contractures / cramps / trismus / tetania / claudication / opisthotonos - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - Kyphosis - Long limbs / dolichostenomelia - Muscle anomalies Occasional - Aortic dilatation / dilation - Congenital cardiac anomaly / malformation / cardiopathy - Duodenal atresia / stenosis / megaduodenum - Intestinal / gut / bowel malrotation - Lens dislocation / luxation / subluxation / ectopia lentis - Tracheo-esophageal fistula / esophageal atresia / stenosis