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Y-shaped metatarsals

MedGen UID:
869363
Concept ID:
C4023789
Pathologic Function
Synonym: Y-shaped long bone of foot
 
HPO: HP:0010567

Definition

Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVY-shaped metatarsals

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Greig cephalopolysyndactyly syndrome
MedGen UID:
120531
Concept ID:
C0265306
Congenital Abnormality
Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.

Recent clinical studies

Diagnosis

Agdoğan Ö
Congenit Anom (Kyoto) 2024 Nov;64(6):228-234. Epub 2024 Jul 6 doi: 10.1111/cga.12578. PMID: 38970409

Therapy

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Clinical prediction guides

Agdoğan Ö
Congenit Anom (Kyoto) 2024 Nov;64(6):228-234. Epub 2024 Jul 6 doi: 10.1111/cga.12578. PMID: 38970409
Montaño-Jiménez P, Pérez-Belloso AJ, Muriel-Sánchez JM, Márquez-Reina S, Goméz-Carrión A, Coheña-Jiménez M
Adv Skin Wound Care 2024 Jun 1;37(6):1-8. doi: 10.1097/ASW.0000000000000148. PMID: 38767428
Won HJ, Oh CS, Yoon YC
Clin Anat 2019 Mar;32(2):212-217. Epub 2018 Oct 14 doi: 10.1002/ca.23282. PMID: 30252160
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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