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Split hand-foot malformation 1(SHFD1; ECD; SHSF1; SHFM1)

MedGen UID:
419314
Concept ID:
C2931019
Congenital Abnormality
Synonyms: Split hand deformity 1; Split hand foot deformity 1; Split hand malformation1; SPLIT-HAND DEFORMITY; SPLIT-HAND/FOOT DEFORMITY 1; Split-hand/foot malformation 1; SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS
 
Gene (location): DLX5 (7q21.3)
 
Monarch Initiative: MONDO:0008464
OMIM®: 183600

Definition

Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). Genetic Heterogeneity of Split-Hand/Foot Malformation Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q28; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13. Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028). Associations Pending Confirmation For discussion of a possible association between split-hand/foot malformation and variation in the EPS15L1 gene, see 616826.0001. [from OMIM]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Ectrodactyly
MedGen UID:
78566
Concept ID:
C0265554
Congenital Abnormality
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
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.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
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.
Foot oligodactyly
MedGen UID:
923973
Concept ID:
C4281601
Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and blood vessels.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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).

Professional guidelines

PubMed

Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A
Spec Care Dentist 2023 Mar;43(2):152-162. Epub 2022 Jul 25 doi: 10.1111/scd.12752. PMID: 35879828
O'Keefe D, Kennedy J, McCombe D, Coombs C, Hui L, Wilks D, Halliday J
J Paediatr Child Health 2022 Jan;58(1):122-128. Epub 2021 Aug 3 doi: 10.1111/jpc.15673. PMID: 34343375
Elliott AM, Evans JA
Am J Med Genet A 2006 Jul 1;140(13):1419-27. doi: 10.1002/ajmg.a.31244. PMID: 16688749

Recent clinical studies

Diagnosis

Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND
Hum Genet 2016 Mar;135(3):345-57. Epub 2016 Feb 2 doi: 10.1007/s00439-016-1635-0. PMID: 26839112

Prognosis

Johnson KR, Gagnon LH, Tian C, Longo-Guess CM, Low BE, Wiles MV, Kiernan AE
Genetics 2018 Mar;208(3):1165-1179. Epub 2018 Jan 3 doi: 10.1534/genetics.117.300447. PMID: 29301908Free PMC Article

Clinical prediction guides

Johnson KR, Gagnon LH, Tian C, Longo-Guess CM, Low BE, Wiles MV, Kiernan AE
Genetics 2018 Mar;208(3):1165-1179. Epub 2018 Jan 3 doi: 10.1534/genetics.117.300447. PMID: 29301908Free PMC Article
Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N
Hum Mol Genet 2012 Nov 15;21(22):4930-8. Epub 2012 Aug 21 doi: 10.1093/hmg/dds336. PMID: 22914741Free PMC Article

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