ODCs

Click node...

Autosomal recessive cutis laxa type 1

2 OMIM references -
2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 6

Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

Autosomal recessive cutis laxa type 1

Shprintzen-Goldberg syndrome

EFEMP2	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		SKI	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EFEMP2 FBLN5	(0.76) (0.63)	FBN1 FBN1

Citations in the biomedical literature:

Autosomal recessive cutis laxa type 1		Shprintzen-Goldberg syndrome
	Synonym(s): - ARCL1 - Autosomal recessive cutis laxa with severe systemic involvement - Autosomal recessive cutis laxa, pulmonary emphysema type		Synonym(s): - Marfanoid craniosynostosis syndrome - SGS

	Classification (Orphanet): - Rare abdominal surgical disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: child / adolescent Type of inheritance: autosomal recessive		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537328


COMMON SIGNS	- Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Long hand / arachnodactyly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Ptosis

Autosomal recessive cutis laxa type 1		Shprintzen-Goldberg syndrome
	Very frequent - Atelectasia / pulmonary collapse - Autosomal recessive inheritance - Bladder / vesical diverticulum - Diaphragmatic hernia / defect / agenesis - Emphysema - Loose skin / skin relaxation / excess skin / creases - Premature ageing - Recurrent urinary infections - Structural anomalies of the cardio-circulatory system Frequent - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial stenosis / occlusion - Broad cheeks / cherub-like / cherubin face - Herniae - Intestinal obstruction / ileus Occasional - Cardiac rhythm disorder / arrhythmia - Colonic / intestinal / bowel diverticulosis / diverticulitis - Early death / lethality - Heart / cardiac failure - Hypothyroidy - Motor deficit / trouble - Mutiple fractures / bone fragility - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Vesicorenal / vesicoureteral reflux - Wormian bones		Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat foot - High vaulted / narrow palate - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Marfanoid morphotype - 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 - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - 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 - 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