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Split hand-foot malformation 1 with sensorineural hearing loss(SHFM1D)

MedGen UID:: 347431
•Concept ID:: C1857344
•: Congenital Abnormality; Disease or Syndrome

Synonyms:	DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET; Split-hand/foot malformation 1 with sensorineural hearing loss; SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
SNOMED CT:	Congenital deafness with split hands and feet (723611008); Split hand, split foot malformation with sensorineural hearing loss syndrome (723611008)
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)

Gene (location): Gene(s) directly associated with this condition or phenotype.	DLX5 (7q21.3)

Monarch Initiative:	MONDO:0009080
OMIM®:	220600
Orphanet:	ORPHA71271

Definition

Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is an autosomal recessive disorder characterized by severe limb defects and moderate to severe hearing loss. There is nearly complete palmar dorsalization, with circumferential fingernails (Shamseldin et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformation, see SHFM1 (183600). [from OMIM]

Clinical features

From HPO

Tapered finger

MedGen UID:: 98098
•Concept ID:: C0426886
•: Finding

The gradual reduction in girth of the finger from proximal to distal.

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Split foot

MedGen UID:: 140919
•Concept ID:: C0432028
•: Congenital Abnormality

A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.

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Split hand

MedGen UID:: 397570
•Concept ID:: C2699510
•: Congenital Abnormality

A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.

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Severe short stature

MedGen UID:: 3931
•Concept ID:: C0013336
•: Disease or Syndrome

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Frontal bossing

MedGen UID:: 67453
•Concept ID:: C0221354
•: Congenital Abnormality

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

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Abnormality of limbs
Abnormality of the musculoskeletal system
- Frontal bossing
- Scoliosis
Ear malformation
- Sensorineural hearing loss disorder
Growth abnormality
- Severe short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSplit hand-foot malformation 1 with sensorineural hearing loss

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Split hand-foot malformation 1 with sensorineural hearing loss

Follow this link to review classifications for Split hand-foot malformation 1 with sensorineural hearing loss in Orphanet.

Recent clinical studies

Etiology

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.

Ramos-Zaldívar HM, Martínez-Irías DG, Espinoza-Moreno NA, Napky-Rajo JS, Bueso-Aguilar TA, Reyes-Perdomo KG, Montes-Gambarelli JA, Euceda IM, Ponce-Barahona AF, Gámez-Fernández CA, Moncada-Arita WA, Palomo-Bermúdez VA, Jiménez-Faraj JE, Hernández-Padilla AG, Olivera DA, Robertson KJ, Leiva-Sanchez LA, Herrera-Paz EF
J Med Case Rep 2016 Jun 13;10(1):156. doi: 10.1186/s13256-016-0921-8. PMID: 27291887 Free PMC Article

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Diagnosis

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q
Eur J Hum Genet 2014 Sep;22(9):1105-10. Epub 2014 Feb 5 doi: 10.1038/ejhg.2014.7. PMID: 24496061 Free PMC Article

Newly recognized ectrodactyly/deafness syndrome.

Raas-Rothschild A, Aviram A, Ben-Ami T, Berger I, Katznelson MB, Goodman RM
J Craniofac Genet Dev Biol 1989;9(2):121-7. PMID: 2794002

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Split hand-foot malformation 1 with sensorineural hearing loss(SHFM1D)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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Table of contents

Genetic Testing Registry

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Molecular resources

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