Genetics · Genetics / Chromosomal disorders
Langer–Giedion syndrome
also: Trichorhinophalangeal syndrome type II
Deletion of 8q24.1 with multiple exostoses and sparse hair.
- Specialty
- Genetics
- Subspecialty
- Genetics / Chromosomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- EXT1, TRPS1
- Alternative names & eponyms
- Trichorhinophalangeal syndrome type II
Etiology & mechanism
Contiguous deletion of TRPS1 and EXT1.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Langer–Giedion syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Cardiofaciocutaneous syndrome
intellectual disability, sparse hair
2 shared
Potocki–Shaffer syndrome
intellectual disability, multiple exostoses
2 shared
Trichorhinophalangeal syndrome
cone-shaped epiphyses, pear-shaped nose
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Apert syndrome
intellectual disability
1 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Coffin–Lowry syndrome
intellectual disability
1 shared
Coffin–Siris syndrome
intellectual disability
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