Cytoscape Web
Click node...

Acromicric dysplasia
1 OMIM reference -
1 associated gene
31 connected diseases
20 signs/symptoms
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
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
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
Synonym(s):
(no synonyms)
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535662
Gene symbol UniProt reference OMIM reference
FBN1 P35555134797
Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Long philtrum
- Round face
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Small hand / acromicria

Frequent
- Long / large / bulbous nose
- Microstomia / little mouth
- Nerve conduction abnormality
- Thick lips

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomalies of spine, vertebrae and pelvis
- Delayed bone age
- Epiphyseal anomaly
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Metacarpal anomalies / Archibald's sign
- Restricted joint mobility / joint stiffness / ankylosis