Version June 2024
| Syndrome | Features | Mode of inheritance | Gene(s) | Percent of individuals with this disorder who have Hirschsprung disease |
| Bardet-Biedl syndrome | Retinal dystrophy, obesity, intellectual disability, polydactyly, hypogenitalism, kidney abnormalities | AR | At least 22 loci/genes, as summarized in MIM phenotype #209900 | 2 to 10%* |
| Cartilage-hair hypoplasia | Short-limbed dwarfism, sparse hair, immune defects | AR | RMRP | 7 to 9% |
| Congenital central hypoventilation syndrome | Hypoxia, reduced ventilatory drive, neuroblastoma | Variable | PHOX2B; RET; GDNF; EDN3; BDNF | 20% |
| Familial dysautonomia (Riley-Day syndrome) | Sensory and autonomic dysfunction (including abnormal sweat, tear, and saliva production) | AR | ELP1 (IKBKAP) | Unknown |
| Fryns syndrome | Distal digital hypoplasia, diaphragmatic hernia, CHD, craniofacial, intellectual disability | AR | Unknown | Unknown |
| Goldberg-Shprintzen syndrome | Craniofacial, microcephaly, intellectual disability, polymicrogyria | AR | KIFBP (KIAA1279) Others? | Common |
| Intestinal neuronal dysplasia | Abnormal intestinal innervation with giant ganglia | Unknown | Unknown | ≤20%* |
| L1 syndrome | Intellectual disability, hydrocephalus, ACC, adducted thumbs | XLR | L1CAM | Rare |
| MEN2A/FMTC | MTC, pheochromocytoma, hyperparathyroidism¶ | AD | RET | ≤1% |
| MEN2B | MTC, pheochromocytoma, mucosal and intestinal neuromas, skeletal abnormalities, corneal changes | AD | RET | Rare |
| Mowat-Wilson syndrome | Intellectual disability, microcephaly, craniofacial, CHD, ACC, epilepsy, short stature | AD | ZEB2 (ZFHX1B) | 41 to 71% |
| Neurofibromatosis 1 | Café-au-lait macules, neurofibromas, Lisch nodules | AD | (?) | Unknown |
| Smith-Lemli-Opitz syndrome | Intellectual disability, hypospadias, 2/3 syndactyly, CHD, craniofacial | AR | DHCR7 | Unknown |
| Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) | Pigmentary abnormalities, deafness | AR (usually) | EDNRB; EDN3 | Common |
| AD | SOX10 | Almost 100% |
ACC: agenesis of the corpus callosum; AD: autosomal dominant; AR: autosomal recessive; CHD: congenital heart disease; FMTC: familial medullary thyroid cancer; MEN2A: multiple endocrine neoplasia type 2A; MEN2B: multiple endocrine neoplasia type 2B; MTC: medullary thyroid carcinoma; XLR: X-linked recessive.
* Limited data are available.
¶ In FMTC, affected individuals do not have pheochromocytoma or hyperparathyroidism.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
