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Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

Geleophysic dysplasia

Shprintzen-Goldberg syndrome

ADAMTSL2	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
FBN1	(UniProt - OMIM)		SKI	(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Geleophysic dysplasia		Shprintzen-Goldberg syndrome
	Synonym(s): - Geleophysic dwarfism		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: <1 / 1 000 000 Average age onset: childhood Average age of death: - 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: 2 OMIM references - 1 MeSH reference: C537677		External references: 1 OMIM reference - 1 MeSH reference: C537328


COMMON SIGNS	- Abnormal vertebral size / shape - Anteverted nares / nostrils - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Apnea / sleep apnea - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Restricted joint mobility / joint stiffness / ankylosis

Geleophysic dysplasia		Shprintzen-Goldberg syndrome
	Very frequent - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Cardiac valvulopathy - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Long philtrum - Metacarpal anomalies / Archibald's sign - Philtrum flat / large / featureless / absent cupidon bows - Round face - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Thin / retracted lips Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Broad nose / nasal bridge - Chronic / relapsing otitis - Death in infancy - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Intrauterine growth retardation - Mitral valve atresia / stenosis / narrowing - Platyspondyly - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round ear - Short limbs / micromelia / brachymelia - Thick skin / pachydermia / orange skin - tricuspid valve atresia / stenosis / narrowing Occasional - Larynx / laryngeal stenosis / atresia - Pulmonary hypertension - Tracheal atresia / stenosis		Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat foot - High vaulted / narrow palate - Hypotonia - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Proptosis / exophthalmos - Telecanthus / canthal dystopy Frequent - 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 - Scoliosis - Strabismus / squint - Talipes-varus / metatarsal varus - Umbilical hernia Occasional - Absent / hypotonic / flaccid abdominal wall muscles - 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 - 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