ODCs

Click node...

Dyssegmental dysplasia, Silverman-Handmaker type

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Shprintzen-Goldberg syndrome

HSPG2	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
			SKI	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.52)	FBN1

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Shprintzen-Goldberg syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Marfanoid craniosynostosis syndrome - SGS

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age onset: - Average age of death: - 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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537328


COMMON SIGNS	- Abnormal vertebral size / shape - Bowed diaphysis / diaphyses / long bones - Inguinal / inguinoscrotal / crural hernia - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Restricted joint mobility / joint stiffness / ankylosis - Umbilical hernia

Dyssegmental dysplasia, Silverman-Handmaker type		Shprintzen-Goldberg syndrome
	Very frequent - Autosomal recessive inheritance - Blue sclerae - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death		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 - 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 - 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 - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pectus carinatum - Pectus excavatum - Ptosis - Scoliosis - Strabismus / squint - Talipes-varus / metatarsal varus Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Anteverted nares / nostrils - Apnea / sleep apnea - Arnold-Chiari anomaly - Autosomal dominant inheritance - 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 - Microcephaly - Myopia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Prominent / bat ears - Rib number anomalies - Undescended / ectopic testes / cryptorchidia / unfixed testes