Meckel–Gruber syndrome

Also known as: Meckel syndrome

Lethal ciliopathy with occipital encephalocele, polydactyly and cystic kidneys.

Medical 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

Etiology & mechanism

Ciliary gene defects.

Gene(s) involved (13)

B9D1B9D2CC2D2ACEP290KIF14MKS1NPHP3RPGRIP1LTCTN2TMEM107TMEM216TMEM231TMEM67

Symptoms & signs (6)

early deathoccipital encephaloceleoligohydramniospolycystic kidneyspolydactylypulmonary hypoplasia

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