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Hand monodactyly

MedGen UID:
870952
Concept ID:
C4025415
Congenital Abnormality
HPO: HP:0004058

Conditions with this feature

CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Gollop-Wolfgang complex
MedGen UID:
341622
Concept ID:
C1856789
Disease or Syndrome
A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested.
Tetramelic monodactyly
MedGen UID:
349989
Concept ID:
C1861233
Congenital Abnormality
A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.
Split-hand/foot malformation with long bone deficiency 1
MedGen UID:
349310
Concept ID:
C1861553
Disease or Syndrome
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
MedGen UID:
355340
Concept ID:
C1864965
Disease or Syndrome
Karsch-Neugebauer syndrome
MedGen UID:
401072
Concept ID:
C1866740
Disease or Syndrome
A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.

Recent clinical studies

Etiology

Hülsbergen-Krüger S, Preisser P, Partecke BD
J Hand Surg Br 1998 Apr;23(2):192-5. doi: 10.1016/s0266-7681(98)80173-3. PMID: 9607658
De Smet L, Fabry G
J Pediatr Orthop B 1998 Apr;7(2):158-61. doi: 10.1097/01202412-199804000-00014. PMID: 9597595

Diagnosis

Langeh N, Ansari MT, Kabra M, Gupta N
Am J Med Genet A 2024 May;194(5):e63520. Epub 2024 Jan 2 doi: 10.1002/ajmg.a.63520. PMID: 38168117
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
Koo BS, Baek SJ, Kim MR, Joo WD, Yoo HJ
Fetal Diagn Ther 2008;24(3):161-4. Epub 2008 Aug 28 doi: 10.1159/000151331. PMID: 18753750

Prognosis

Hülsbergen-Krüger S, Preisser P, Partecke BD
J Hand Surg Br 1998 Apr;23(2):192-5. doi: 10.1016/s0266-7681(98)80173-3. PMID: 9607658

Clinical prediction guides

Bujdoso G, Lenz W
Eur J Pediatr 1980 May;133(3):207-15. doi: 10.1007/BF00496078. PMID: 7389732
Svejcar J, Kleinebrecht J, Degenhardt KH
Clin Genet 1976 Feb;9(2):143-8. doi: 10.1111/j.1399-0004.1976.tb01560.x. PMID: 1248173

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