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Split hand-foot malformation 4(SHFM4)

MedGen UID:
343120
Concept ID:
C1854442
Disease or Syndrome
Synonyms: Split-hand/foot malformation 4; Split-Hand/Foot Malformation Type 4 (SHFM4 syndrome); Split-Hand/Foot Malformation Type 4 (SHFM4)
 
Gene (location): TP63 (3q28)
 
Monarch Initiative: MONDO:0011535
OMIM®: 605289

Disease characteristics

Excerpted from the GeneReview: TP63-Related Disorders
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. [from GeneReviews]
Authors:
V Reid Sutton  |  Hans van Bokhoven   view full author information

Additional description

From OMIM
Split-hand/split-foot malformation 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 SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).  http://www.omim.org/entry/605289

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.
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
322855
Concept ID:
C1836192
Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Aplasia/Hypoplasia of the phalanges of the hand
MedGen UID:
341279
Concept ID:
C1848670
Finding
Small or missing phalangeal bones of the fingers of the hand.
Aplasia/Hypoplasia of metatarsal bones
MedGen UID:
348560
Concept ID:
C1860182
Finding
Absence or underdevelopment of the metatarsal bones.
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.
Aplasia/Hypoplasia of the phalanges of the toes
MedGen UID:
869559
Concept ID:
C4023987
Finding

Recent clinical studies

Diagnosis

Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ
Eur J Med Genet 2024 Apr;68:104911. Epub 2024 Jan 26 doi: 10.1016/j.ejmg.2024.104911. PMID: 38281558
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article

Prognosis

Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article

Clinical prediction guides

Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY
J Gene Med 2019 Oct;21(10):e3122. Epub 2019 Aug 30 doi: 10.1002/jgm.3122. PMID: 31420900
Yang X, Lin X, Zhu Y, Luo J, Lin G
Mol Med Rep 2018 Jun;17(6):7553-7558. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8838. PMID: 29620206Free PMC Article

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