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Holoprosencephaly caudal dysgenesis

MedGen UID:: 441620
•Concept ID:: CN072874
•: Disease or Syndrome

Authors:
Cedrik Tekendo-Ngongang | Maximilian Muenke | Paul Kruszka view full author information

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Morphological central nervous system abnormality
      - Abnormal brain morphology
        Holoprosencephaly sequence
        Holoprosencephaly caudal dysgenesis

Recent clinical studies

Etiology

Sirenomelia: case reports and current concepts of pathogenesis.

Pillay M, Yesodharan D, Narayanan DL, Jojo A, Luiz N, Nampoothiri S
Pediatr Dev Pathol 2012 Sep-Oct;15(5):403-6. Epub 2012 Jul 20 doi: 10.2350/12-05-1199-CC.1. PMID: 22816558

Holoprosencephaly in infants of diabetic mothers.

Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN
J Pediatr 1983 Apr;102(4):565-8. doi: 10.1016/s0022-3476(83)80185-1. PMID: 6834191

See all (2)

Diagnosis

Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia-ischemia a unifying mechanism?

Siebert JR
Am J Med Genet A 2007 Dec 15;143A(24):3100-6. doi: 10.1002/ajmg.a.32027. PMID: 18000898

Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis.

Takahashi TS, Kinsman S, Makris N, Grant E, Haselgrove C, McInerney S, Kennedy DN, Takahashi TA, Fredrickson K, Mori S, Caviness VS
J Neurocytol 2004 Jan;33(1):23-35. doi: 10.1023/B:NEUR.0000029646.75645.9c. PMID: 15173630

Midline skeletodental morphology in holoprosencephaly.

Kjaer I, Keeling JW, Fischer Hansen B, Becktor KB
Cleft Palate Craniofac J 2002 May;39(3):357-63. doi: 10.1597/1545-1569_2002_039_0357_msmih_2.0.co_2. PMID: 12019014

Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis.

Gofflot F, Gaoua W, Bourguignon L, Roux C, Picard JJ
Dev Dyn 2001 Feb;220(2):99-111. doi: 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1092>3.0.CO;2-G. PMID: 11169843

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies.

Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC
Am J Med Genet 1998 Oct 30;80(1):46-59. doi: 10.1002/(sici)1096-8628(19981102)80:1<46::aid-ajmg8>3.0.co;2-l. PMID: 9800911

See all (5)

Therapy

Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis.

Takahashi T, Kinsman S, Makris N, Grant E, Haselgrove C, McInerney S, Kennedy DN, Takahashi T, Fredrickson K, Mori S, Caviness VS
Cereb Cortex 2003 Dec;13(12):1299-312. doi: 10.1093/cercor/bhg077. PMID: 14615296

See all (1)

Prognosis

Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia-ischemia a unifying mechanism?

Siebert JR
Am J Med Genet A 2007 Dec 15;143A(24):3100-6. doi: 10.1002/ajmg.a.32027. PMID: 18000898

Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.

Martínez-Frías ML, Bermejo E, García A, Galán E, Prieto L
Am J Med Genet 1994 Oct 15;53(1):46-51. doi: 10.1002/ajmg.1320530110. PMID: 7802035

See all (2)

Clinical prediction guides

Characterizing the coalescence area of conjoined twins to elucidate congenital disorders in singletons.

Boer LL, Schepens-Franke AN, Winter E, Oostra RJ
Clin Anat 2021 Sep;34(6):845-858. Epub 2021 Feb 20 doi: 10.1002/ca.23725. PMID: 33533057 Free PMC Article

Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia-ischemia a unifying mechanism?

Siebert JR
Am J Med Genet A 2007 Dec 15;143A(24):3100-6. doi: 10.1002/ajmg.a.32027. PMID: 18000898

Midline skeletodental morphology in holoprosencephaly.

Kjaer I, Keeling JW, Fischer Hansen B, Becktor KB
Cleft Palate Craniofac J 2002 May;39(3):357-63. doi: 10.1597/1545-1569_2002_039_0357_msmih_2.0.co_2. PMID: 12019014

Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis.

Gofflot F, Gaoua W, Bourguignon L, Roux C, Picard JJ
Dev Dyn 2001 Feb;220(2):99-111. doi: 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1092>3.0.CO;2-G. PMID: 11169843

A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

Ahdab-Barmada M, Claassen D
J Neuropathol Exp Neurol 1990 Nov;49(6):610-20. doi: 10.1097/00005072-199011000-00007. PMID: 2230839

See all (5)

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Holoprosencephaly caudal dysgenesis

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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