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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).
 
Gene (location): 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.
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.
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 middle fingers as far as oligo- or monodactyl hands.
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.
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSplit 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.

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