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Geleophysic dysplasia
2 OMIM references -
2 associated genes
32 connected diseases
44 signs/symptoms
Disease Type of connection
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Supravalvular aortic stenosis
Williams syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Congenital glaucoma
Juvenile glaucoma
Wagner disease
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Hereditary sensorimotor neuropathy with hyperelastic skin
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Synpolydactyly type 2
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
Synonym(s):
- Geleophysic dwarfism
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
2 OMIM references -
1 MeSH reference: C537677
Gene symbol UniProt reference OMIM reference
ADAMTSL2 Q86TH1612277
FBN1 P35555134797
Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Cardiac valvulopathy
- Cone epiphyses / epiphysis
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hypertelorism
- Long philtrum
- Metacarpal anomalies / Archibald's sign
- Philtrum flat / large / featureless / absent cupidon bows
- Restricted joint mobility / joint stiffness / ankylosis
- 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
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- 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
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- 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
- Apnea / sleep apnea
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Larynx / laryngeal stenosis / atresia
- Pulmonary hypertension
- Tracheal atresia / stenosis