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Meckel syndrome
10 OMIM references -
13 associated genes
47 connected diseases
45 signs/symptoms
Disease Type of connection
Bardet-Biedl syndrome
Joubert syndrome with oculorenal defect
Joubert syndrome with hepatic defect
Leber congenital amaurosis
Joubert syndrome
Joubert syndrome with renal defect
Senior-Loken syndrome
Cone rod dystrophy
Senior-Boichis syndrome
Jeune syndrome
Joubert syndrome with ocular defect
Joubert syndrome with orofaciodigital defect
Achromatopsia
Juvenile autosomal recessive medullary cystic kidney disease
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Retinitis pigmentosa
Papillary or follicular thyroid carcinoma
Bleeding diathesis due to thromboxane synthesis deficiency
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Infantile autosomal recessive medullary cystic kidney disease
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Alveolar soft-part sarcoma
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Chronic respiratory distress with surfactant metabolism deficiency
Congenital dyserythropoietic anemia type II
Congenital pulmonary alveolar proteinosis
Desquamative interstitial pneumonia
Estrogen resistance syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Hereditary sensorimotor neuropathy with hyperelastic skin
Idiopathic pulmonary fibrosis
Infant acute respiratory distress syndrome
Inherited acute myeloid leukemia
LIG4 syndrome
Lennox-Gastaut syndrome
Mosaic variegated aneuploidy syndrome
Multiple endocrine neoplasia type 1
Omenn syndrome
Translocation renal cell carcinoma
Synonym(s):
- Meckel-Gruber syndrome
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
10 OMIM references -
No MeSH references
Very frequent
- Autosomal recessive inheritance
- Congenital hepatic fibrosis
- Encephalocele / exencephaly
- Microcephaly
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Postaxial polydactyly of toes / fifth supernumerary toe
- Stillbirth / neonatal death

Frequent
- Ambiguous genitalia
- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Broad cheeks / cherub-like / cherubin face
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Oligoamnios
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Sloping forehead
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anencephaly / acrania
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Bowed diaphysis / diaphyses / long bones
- Congenital cardiac anomaly / malformation / cardiopathy
- Congenital pancreatic cyst
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Fissured / scrotal tongue
- Hydrocephaly
- Male pseudohermaphrodism / lack of virilisation
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Pancreatic fibrosis
- Polycystic liver disease / hepatic cysts
- Preaxial polydactyly (hand)
- True hermaphrodism
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis