Nephrology · Nephrology / Hereditary kidney disease
Orofaciodigital syndrome type 1
also: OFD1 syndrome
X-linked dominant ciliopathy with oral, facial and digital anomalies and renal cysts.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected, mostly lethal prenatally; Female: affected; Children: yes, birth
- Gene(s) involved
- OFD1
- Alternative names & eponyms
- OFD1 syndrome
Etiology & mechanism
OFD1 loss of function affects cilia.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Orofaciodigital syndrome type 1 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
3 shared
Apert syndrome
cleft palate, intellectual disability, syndactyly
2 shared
Meckel–Gruber syndrome
polycystic kidneys, polydactyly
2 shared
Potocki–Shaffer syndrome
intellectual disability, syndactyly
2 shared
Simpson–Golabi–Behmel syndrome
cleft palate, polydactyly
2 shared
Smith–Lemli–Opitz syndrome
cleft palate, intellectual disability
2 shared
Wolf–Hirschhorn syndrome
cleft palate, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Autoimmune polyglandular syndrome type 1
alopecia
1 shared
Bamforth–Lazarus syndrome
cleft palate
Shares genes with
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