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Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities(NEDHFDB)

MedGen UID:
1857550
Concept ID:
C5935629
Disease or Syndrome
Synonyms: NEDHFDB; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
 
Gene (location): WBP4 (13q14.11)
 
Monarch Initiative: MONDO:0971043
OMIM®: 620852

Definition

Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (NEDHFDB) is an autosomal recessive disorder characterized by poor overall growth apparent from infancy, global developmental delay with motor delay, and severely impaired intellectual development with poor or absent speech. Additional features include feeding difficulties, dysmorphic facies, variable congenital heart defects, and brain imaging abnormalities, usually hypoplasia of the corpus callosum (Engal et al., 2023). [from OMIM]

Professional guidelines

PubMed

Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D
J Med Genet 2018 Feb;55(2):104-113. Epub 2017 Nov 2 doi: 10.1136/jmedgenet-2017-104946. PMID: 29097605Free PMC Article

Recent clinical studies

Etiology

Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article

Diagnosis

Schrier Vergano SA
Am J Med Genet A 2024 Jun;194(6):e63540. Epub 2024 Jan 19 doi: 10.1002/ajmg.a.63540. PMID: 38243407
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article
Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM Jr, Grand K, Pierson TM, Chung JM, Balasubramanian M
Am J Med Genet A 2023 Jan;191(1):29-36. Epub 2022 Sep 29 doi: 10.1002/ajmg.a.62981. PMID: 36177608Free PMC Article
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM
Eur J Med Genet 2020 Oct;63(10):104004. Epub 2020 Jul 17 doi: 10.1016/j.ejmg.2020.104004. PMID: 32688057
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D
J Med Genet 2018 Feb;55(2):104-113. Epub 2017 Nov 2 doi: 10.1136/jmedgenet-2017-104946. PMID: 29097605Free PMC Article

Prognosis

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D
J Med Genet 2018 Feb;55(2):104-113. Epub 2017 Nov 2 doi: 10.1136/jmedgenet-2017-104946. PMID: 29097605Free PMC Article
Zorlu P, Eksioglu AS, Ozkan M, Tos T, Senel S
Genet Couns 2014;25(3):299-303. PMID: 25365852

Clinical prediction guides

Schrier Vergano SA
Am J Med Genet A 2024 Jun;194(6):e63540. Epub 2024 Jan 19 doi: 10.1002/ajmg.a.63540. PMID: 38243407
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N
Eur J Hum Genet 2023 Jan;31(1):112-121. Epub 2022 Nov 14 doi: 10.1038/s41431-022-01217-4. PMID: 36376392Free PMC Article
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D
J Med Genet 2018 Feb;55(2):104-113. Epub 2017 Nov 2 doi: 10.1136/jmedgenet-2017-104946. PMID: 29097605Free PMC Article

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