Klinische FragestellungAnalatresie/anorektale Fehlbildungen, Differentialdiagnose

NGS +

[Sanger]

Anorektale Fehlbildungen sind Entwicklungsdefekte des Enddarms im Stadium der primitiven Kloake. Es finden sich zusätzlich Fehlbildungen weiterer Organe (Speiseröhre, Niere, Wirbelsäule, Urogenital, Herz) Bei gleichzeitigem Vorliegen mehrerer Begleitfehlbildungen werden häufig die Acronyme VATER und VACTERL benutzt. Ätiologisch sind in einem Teil der Fälle genetische Faktoren ursächlich. Es handelt sich um ein multifaktorielles Geschehen, in 10% der Fälle liegt eine bekannte genetische Ursache zu Grunde (Trisomie 13,18,21, Veränderungen an Chromosom 22,7 oder 13), zusätzlich gibt es seltene hereditäre Syndrome wie Townes-Brocks Syndrom, Currarino Syndrom und Fanconi Anämie.

Literatur: https://register.awmf.org/assets/guidelines/006-002l_S1_Anorektale-Fehlbildungen_2024-04.pdf

• Alias: Anal atresia
• Allelic: Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)
• Allelic: Baller-Gerold syndrome [craniosynostosis, radial aplasia] (RECQL4)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
• Allelic: Fanconi anemia, complementation group B (FANCB)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Heterotaxy, visceral, 1, XL (ZIC3)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Hirschsprung disease, susceptibility to, 2 (EDVRB)
• Allelic: Hypothalamic hamartomas, somatic (GLI3)
• Allelic: Intellectual developm. disorder + microcephaly with pontine + cerebellar hypoplasia (CASK)
• Allelic: Lujan-Fryns syndrome [mental retardation, XL; marfanoid habitus] (MED12)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Mental retardation, with/-out nystagmus (CASK)
• Allelic: Multiple endocrine neoplasia IIA + IIB (RET)
• Allelic: Ohdo syndrome, XL [blepharophimosis, mental retardation] (MED12)
• Allelic: Pallister-Hall syndrome (GLI3)
• Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
• Allelic: Pheochromocytoma (RET)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: RAPADILINO syndrome [radial + patellar aplasia/hypoplasia] (RECQL4)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Rothmund-Thomson syndrome, type 2 [poikiloderma, cong. bone defects, osteosarc.] (RECQL4)
• Allelic: Waardenburg syndrome, type 4A (EDNRB)
• ABCD syndrome [Albinism, Black lock, Cell migration disorder of gut, Deafness] (EDNRB)
• Anorectal malformation (CASK, CDX1, CDX2, FANCB, FOXF1, GLI3, MED12, MNX1, MYCN, MYH14, RET, ZIC3)
• Bardet-Biedl syndrome 1 (BBS1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Currarino syndrome [part. sacral agenesis, presacral mass, anorectal malformation] (MNX1)
• Duane-radial ray [Okihiro; acro-renal-ocular] syndrome (SALL4)
• FG syndrome 4 (CASK)
• Fanconi anemia, complementation group C (FANCC)
• Feingold syndrome 1 (MYCN)
• Helsmoortel-van der Aa syndrome (ADNP)
• IVIC [upper limb anomalies, extraoc. motor disturb., cong. bilateral hearing loss] syndrome (SALL4)
• Intellectual developmental disorder, AD 70 (SETD2)
• Kabuki syndrome 2 (KDM6A)
• Luscan-Lumish syndrome (SETD2)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Opitz GBBB syndrome, type I [hypertelorism, esophageal abnormality, hypospadias] (MID1)
• Opitz-Kaveggia [FG] syndrome [ment. retard., macrocephal, imperfor. anus, corp. call. agen.] (MED12)
• Pallister-Hall syndrome (GLI3)
• Rabin-Pappas syndrome (SETD2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• STAR syndrome; toe Syndactyly, Telecanthus, Anogenital + Renal malformations (CCNQ)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Townes-Brocks syndrome 2 (DACT1)
• VACTERL association with hydrocephalus (FANCB)
• VACTERL association, XL (ZIC3)
• VATER/VACTERL assoc., Alveolar capillary dysplasia + misalignment of pulmonary veins (FOXF1)