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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.
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.
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.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Shield chest
MedGen UID:
322348
Concept ID:
C1834124
Finding
A broad chest.
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Anatomical Abnormality
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.
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.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.

Recent clinical studies

Etiology

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

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

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

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
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

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