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Hydrolethalus syndrome(HLS)

MedGen UID:: 419335
•Concept ID:: C2931104
•: Disease or Syndrome

Synonym:	HLS
SNOMED CT:	Hydrolethalus syndrome (721232000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0006037
OMIM® Phenotypic series:	PS236680
Orphanet:	ORPHA2189

Definition

A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months of survival have been reported. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHydrolethalus syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Ciliopathy
    - Hydrolethalus syndrome

Follow this link to review classifications for Hydrolethalus syndrome in Orphanet.

Professional guidelines

PubMed

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.

Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573

Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis.

de Ravel TJ, van der Griendt MC, Evan P, Wright CA
Prenat Diagn 1999 Mar;19(3):279-81. doi: 10.1002/(sici)1097-0223(199903)19:3<279::aid-pd518>3.0.co;2-l. PMID: 10210131

See all (4)

Recent clinical studies

Etiology

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

Deconte D, Diniz BL, Hartmann JK, de Souza MA, Zottis LFF, Zen PRG, Rosa RFM, Fiegenbaum M
Int J Mol Sci 2024 Jul 19;25(14) doi: 10.3390/ijms25147900. PMID: 39063141 Free PMC Article

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738

Syndromes, disorders and maternal risk factors associated with neural tube defects (V).

Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987

Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

Salonen R, Herva R, Norio R
Clin Genet 1981 May;19(5):321-30. doi: 10.1111/j.1399-0004.1981.tb00718.x. PMID: 7028327

See all (9)

Diagnosis

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Syndromes, disorders and maternal risk factors associated with neural tube defects (V).

Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987

Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis.

de Ravel TJ, van der Griendt MC, Evan P, Wright CA
Prenat Diagn 1999 Mar;19(3):279-81. doi: 10.1002/(sici)1097-0223(199903)19:3<279::aid-pd518>3.0.co;2-l. PMID: 10210131

First-trimester diagnosis of hydrolethalus syndrome.

Ammälä P, Salonen R
Ultrasound Obstet Gynecol 1995 Jan;5(1):60-2. doi: 10.1046/j.1469-0705.1995.05010060.x. PMID: 7850595

Hydrolethalus syndrome.

Salonen R, Herva R
J Med Genet 1990 Dec;27(12):756-9. doi: 10.1136/jmg.27.12.756. PMID: 2074561 Free PMC Article

See all (23)

Therapy

Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

Shashi V, Clark P, Rogol AD, Wilson WG
Am J Med Genet 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107. PMID: 7645593

See all (1)

Prognosis

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S
Am J Hum Genet 2015 Aug 6;97(2):311-8. Epub 2015 Jul 9 doi: 10.1016/j.ajhg.2015.06.003. PMID: 26166481 Free PMC Article

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Walsh DM, Shalev SA, Simpson MA, Morgan NV, Gelman-Kohan Z, Chemke J, Trembath RC, Maher ER
Eur J Med Genet 2013 Jan;56(1):39-42. Epub 2012 Nov 7 doi: 10.1016/j.ejmg.2012.10.004. PMID: 23142271

Syndromes, disorders and maternal risk factors associated with neural tube defects (V).

Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987

Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

Cakir M, Mungan I, Makuloglu M, Okten A
Indian J Pediatr 2006 Aug;73(8):731-3. doi: 10.1007/BF02898455. PMID: 16936370

An Asian girl with a 'milder' form of the Hydrolethalus syndrome.

Shotelersuk V, Punyavoravud V, Phudhichareonrat S, Kukulprasong A
Clin Dysmorphol 2001 Jan;10(1):51-5. doi: 10.1097/00019605-200101000-00011. PMID: 11152149

See all (6)

Clinical prediction guides

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome.

Morava E, Adamovich K, Czeizel AE
Clin Genet 1996 Apr;49(4):211-5. doi: 10.1111/j.1399-0004.1996.tb03289.x. PMID: 8828988

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J
J Med Genet 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. PMID: 1865466 Free PMC Article

Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective.

Toriello HV, Bauserman SC
Am J Med Genet 1985 May;21(1):93-103. doi: 10.1002/ajmg.1320210114. PMID: 4003452

See all (8)

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Hydrolethalus syndrome(HLS)

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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