Lethal ciliopathy with occipital encephalocele, polydactyly and cystic kidneys.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, prenatal
- Gene(s) involved
- B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67
- Alternative names & eponyms
- Meckel syndrome
Etiology & mechanism
Ciliary gene defects.
Gene(s) involved (13)
Symptoms & signs (6)
In plain terms, someone with Meckel–Gruber 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
2 shared
Orofaciodigital syndrome type 1
polycystic kidneys, polydactyly
1 shared
Bardet–Biedl syndrome
polydactyly
1 shared
Donohue syndrome
early death
1 shared
Ellis–van Creveld syndrome
polydactyly
1 shared
Jeune syndrome
polydactyly
1 shared
Knobloch syndrome
occipital encephalocele
1 shared
Patau syndrome
polydactyly
1 shared
Prune belly syndrome
pulmonary hypoplasia
1 shared
Renal–hepatic–pancreatic dysplasia syndrome
oligohydramnios
1 shared
Sengers syndrome
early death
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