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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2(CFSMR2)

MedGen UID:
1803802
•Concept ID:
C5676895
•
Disease or Syndrome
Synonym: CFSMR2
 
Gene (location): RAB5IF (20q11.23)
 
Monarch Initiative: MONDO:0859567
OMIM®: 616994

Definition

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-2 (CFSMR2) is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech (Alanay et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of CFSMR, see CFSMR1 (213980). [from OMIM]

Clinical features

From HPO
Low-set ears
MedGen UID:
65980
•Concept ID:
C0239234
•
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
See: Feature record | Search on this feature
Intellectual disability, severe
MedGen UID:
48638
•Concept ID:
C0036857
•
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
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Cavum septum pellucidum
MedGen UID:
327087
•Concept ID:
C1840380
•
Finding
If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
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Absent speech
MedGen UID:
340737
•Concept ID:
C1854882
•
Finding
Complete lack of development of speech and language abilities.
See: Feature record | Search on this feature
Shield chest
MedGen UID:
322348
•Concept ID:
C1834124
•
Finding
A broad chest.
See: Feature record | Search on this feature
Thoracic scoliosis
MedGen UID:
387910
•Concept ID:
C1857790
•
Anatomical Abnormality
See: Feature record | Search on this feature
Pectus excavatum
MedGen UID:
781174
•Concept ID:
C2051831
•
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
See: Feature record | Search on this feature
Bilateral cleft lip
MedGen UID:
451046
•Concept ID:
C0392005
•
Congenital Abnormality
A non-midline cleft of the upper lip on the left and right sides.
See: Feature record | Search on this feature
Short neck
MedGen UID:
99267
•Concept ID:
C0521525
•
Finding
Diminished length of the neck.
See: Feature record | Search on this feature
Flat face
MedGen UID:
342829
•Concept ID:
C1853241
•
Finding
Absence of concavity or convexity of the face when viewed in profile.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T
Brain Dev 2015 May;37(5):515-26. Epub 2014 Aug 27 doi: 10.1016/j.braindev.2014.08.002. PMID: 25172301

Diagnosis

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T
Brain Dev 2015 May;37(5):515-26. Epub 2014 Aug 27 doi: 10.1016/j.braindev.2014.08.002. PMID: 25172301

Prognosis

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T
Brain Dev 2015 May;37(5):515-26. Epub 2014 Aug 27 doi: 10.1016/j.braindev.2014.08.002. PMID: 25172301

Clinical prediction guides

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.
Halperin D, Agam N, Hallak M, Feinstein M, Drabkin M, Yogev Y, Wormser O, Shavit E, Gradstein L, Shelef I, Mijalovsky A, Flusser H, Birk OS
Clin Genet 2022 Aug;102(2):123-129. Epub 2022 May 5 doi: 10.1111/cge.14143. PMID: 35443069Free PMC Article
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T
Brain Dev 2015 May;37(5):515-26. Epub 2014 Aug 27 doi: 10.1016/j.braindev.2014.08.002. PMID: 25172301

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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