U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Split-hand/foot malformation with long bone deficiency 1(SHFLD1)

MedGen UID:
349310
•Concept ID:
C1861553
•
Disease or Syndrome
Synonyms: Aplasia of tibia with ectrodactyly; Cleft hand absent tibia; CLEFT HAND AND ABSENT TIBIA; Ectrodactyly with aplasia of long bones; Ectrodactyly with Tibial Hemimelia; SHFLD1; Split-hand/foot malformation with long bone deficiency; Tibial aplasia with split-hand/split-foot deformity
 
Monarch Initiative: MONDO:0007332
OMIM®: 119100

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Absent forearm
MedGen UID:
278055
•Concept ID:
C1408532
•
Finding
See: Feature record | Search on this feature
Aplasia/Hypoplasia of the ulna
MedGen UID:
356032
•Concept ID:
C1865571
•
Congenital Abnormality
Absence or underdevelopment of the ulna.
See: Feature record | Search on this feature
Short hallux
MedGen UID:
400890
•Concept ID:
C1865992
•
Finding
Underdevelopment (hypoplasia) of the big toe.
See: Feature record | Search on this feature
Patellar aplasia
MedGen UID:
401474
•Concept ID:
C1868578
•
Congenital Abnormality
Absence of the patella.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Absent tibia
MedGen UID:
478374
•Concept ID:
C3276744
•
Finding
Absence of the tibia.
See: Feature record | Search on this feature
Aplasia of the 3rd finger
MedGen UID:
869915
•Concept ID:
C4024346
•
Finding
Absent 3rd finger.
See: Feature record | Search on this feature
Hand monodactyly
MedGen UID:
870952
•Concept ID:
C4025415
•
Congenital Abnormality
See: Feature record | Search on this feature
Cupped ear
MedGen UID:
335186
•Concept ID:
C1845447
•
Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.
Al Kaissi A, Ganger R, Klaushofer K, Grill F
Afr J Paediatr Surg 2014 Jan-Mar;11(1):3-7. doi: 10.4103/0189-6725.129201. PMID: 24647283

Diagnosis

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
Bukowska-Olech E, Sowińska-Seidler A, Wierzba J, Jamsheer A
Orphanet J Rare Dis 2022 Aug 26;17(1):325. doi: 10.1186/s13023-022-02480-w. PMID: 36028842Free PMC Article
The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency.
Kucińska-Chahwan A, Szczęśniak D, Nowakowska B, Roszkowski T
Taiwan J Obstet Gynecol 2019 Jul;58(4):574-576. doi: 10.1016/j.tjog.2019.05.026. PMID: 31307755
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
Petit F, Andrieux J, Demeer B, Collet LM, Copin H, Boudry-Labis E, Escande F, Manouvrier-Hanu S, Mathieu-Dramard M
Eur J Med Genet 2013 Feb;56(2):88-92. Epub 2012 Nov 30 doi: 10.1016/j.ejmg.2012.11.002. PMID: 23202277
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE
Eur J Hum Genet 2011 Nov;19(11):1144-51. Epub 2011 Jun 1 doi: 10.1038/ejhg.2011.97. PMID: 21629300Free PMC Article

Therapy

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J
Eur J Med Genet 2014 Sep;57(9):503-9. Epub 2014 May 27 doi: 10.1016/j.ejmg.2014.05.006. PMID: 24874887

Prognosis

Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.
Al Kaissi A, Ganger R, Klaushofer K, Grill F
Afr J Paediatr Surg 2014 Jan-Mar;11(1):3-7. doi: 10.4103/0189-6725.129201. PMID: 24647283

Clinical prediction guides

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U
Am J Hum Genet 2007 Jan;80(1):105-11. Epub 2006 Nov 29 doi: 10.1086/510724. PMID: 17160898Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...