Hypertelorism, hypospadias and laryngotracheoesophageal anomalies.
- Specialty
- ENT
- Subspecialty
- ENT / Laryngology and head and neck
- Sex & age distribution
- Male: affected, X-linked; Female: affected, milder; Children: yes
- Gene(s) involved
- MID1, SPECC1L
- Alternative names & eponyms
- Opitz–Frias syndrome
Etiology & mechanism
MID1 or SPECC1L mutation.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Opitz G/BBB 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.
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Shares symptoms with
1 shared
Aarskog–Scott syndrome
hypertelorism
1 shared
CHARGE syndrome
swallowing difficulty
1 shared
Crouzon syndrome
hypertelorism
1 shared
LEOPARD syndrome
hypertelorism
1 shared
Loeys–Dietz syndrome
hypertelorism
1 shared
Noonan syndrome
hypertelorism
1 shared
Noonan syndrome with multiple lentigines
hypertelorism
1 shared
Pallister–Hall syndrome
laryngeal cleft
1 shared
Robinow syndrome
hypertelorism
1 shared
Smith–Lemli–Opitz syndrome
hypospadias
Shares genes with
None.
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