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Microcephaly-cardiac defect-lung malsegmentation syndrome

MedGen UID:
371329
Concept ID:
C1832436
Disease or Syndrome
Synonyms: Ellis Yale Winter syndrome; Microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis; Microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs
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).
 
Monarch Initiative: MONDO:0011050
OMIM®: 601355
Orphanet: ORPHA2516

Definition

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. [from ORDO]

Clinical features

From HPO
Unilateral renal agenesis
MedGen UID:
75607
Concept ID:
C0266294
Congenital Abnormality
A unilateral form of agenesis of the kidney.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Truncus arteriosus
MedGen UID:
22501
Concept ID:
C0041206
Embryonic Structure
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
Hydranencephaly
MedGen UID:
6937
Concept ID:
C0020225
Congenital Abnormality
A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormality of the respiratory system
MedGen UID:
866322
Concept ID:
C4018871
Anatomical Abnormality
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Preauricular pit
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-cardiac defect-lung malsegmentation syndrome

Professional guidelines

PubMed

Kaissi AA, Kenis V, Shboul M, Grill F, Ganger R, Kircher SG
J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620911771. doi: 10.1177/2324709620911771. PMID: 32172608Free PMC Article
Burnett SE, Stojanowski CM, Mahakkanukrauh P
Ann Anat 2015 Mar;198:58-65. Epub 2014 Dec 10 doi: 10.1016/j.aanat.2014.11.002. PMID: 25556074

Recent clinical studies

Etiology

Kaissi AA, Kenis V, Shboul M, Grill F, Ganger R, Kircher SG
J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620911771. doi: 10.1177/2324709620911771. PMID: 32172608Free PMC Article
Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F
Eur Spine J 2015 Mar;24(3):594-9. Epub 2014 Feb 7 doi: 10.1007/s00586-014-3204-3. PMID: 24504787
Sparrow DB, Clements M, Withington SL, Scott AN, Novotny J, Sillence D, Kusumi K, Beddington RS, Dunwoodie SL
Int J Dev Biol 2002;46(4):365-74. PMID: 12141422
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114

Diagnosis

Al Kaissi A, Stuecker R, Ganger R, Klaushofer K, Grill F
Afr J Paediatr Surg 2014 Oct-Dec;11(4):341-6. doi: 10.4103/0189-6725.143163. PMID: 25323186
Kaissi AA, Chehida FB, Latos-Bielenska A, Gharbi H, Ghachem MB, Hendaoui L, Kozlowski K
Skeletal Radiol 2007 Jan;36(1):77-81. Epub 2006 Mar 18 doi: 10.1007/s00256-005-0073-1. PMID: 16547749
Oostra RJ, Maas M
Am J Med Genet A 2006 Oct 1;140(19):2135-8. doi: 10.1002/ajmg.a.31418. PMID: 16955411
Breitling M, Lemire EG, Rabin M
Pediatr Radiol 2006 Aug;36(8):866-9. Epub 2006 Jun 8 doi: 10.1007/s00247-006-0181-7. PMID: 16761119
Al Kaissi A, Ghachem MB, Nassib N, Ben Chehida F, Kozlowski K
Skeletal Radiol 2005 Jun;34(6):364-6. Epub 2004 Nov 16 doi: 10.1007/s00256-004-0869-4. PMID: 15891931

Prognosis

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114

Clinical prediction guides

Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F
Eur Spine J 2015 Mar;24(3):594-9. Epub 2014 Feb 7 doi: 10.1007/s00586-014-3204-3. PMID: 24504787
Sparrow DB, Chapman G, Dunwoodie SL
Mamm Genome 2011 Aug;22(7-8):362-76. Epub 2011 Jun 11 doi: 10.1007/s00335-011-9335-5. PMID: 21667129
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD
Nat Genet 2000 Apr;24(4):438-41. doi: 10.1038/74307. PMID: 10742114

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