Humerus trochlea aplasia

MedGen UID:: 348185
•Concept ID:: C1860773
•: Congenital Abnormality

Synonym:	Trochlea of the humerus aplasia of
SNOMED CT:	Humerus trochlea aplasia (732928005); Aplasia of trochlea of humerus (732928005)

Monarch Initiative:	MONDO:0008611
OMIM®:	191000
Orphanet:	ORPHA3383

Definition

An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. [from SNOMEDCT_US]

Clinical features

From HPO

Short humerus

MedGen UID:: 316907
•Concept ID:: C1832117
•: Congenital Abnormality

Underdevelopment of the humerus.

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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).

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Abnormality of head or neck
- Cleft palate
Abnormality of limbs
- Short humerus

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHumerus trochlea aplasia

Syndrome with limb reduction defects
- Humerus trochlea aplasia

Follow this link to review classifications for Humerus trochlea aplasia in Orphanet.

Recent clinical studies

Etiology

Osteochondritis Dissecans of the Humeral Trochlea: Characterization of a Rare Disorder Based on 28 Cases.

Wang KK, Bixby SD, Bae DS
Am J Sports Med 2019 Jul;47(9):2167-2173. Epub 2019 Jun 24 doi: 10.1177/0363546519855036. PMID: 31233330

Osteochondral lesions of the humeral trochlea in the young athlete.

Marshall KW, Marshall DL, Busch MT, Williams JP
Skeletal Radiol 2009 May;38(5):479-91. Epub 2009 Feb 17 doi: 10.1007/s00256-009-0661-6. PMID: 19221737

Osteochondritis dissecans involving the trochlea: report of two patients (three elbows) and review of the literature.

Patel N, Weiner SD
J Pediatr Orthop 2002 Jan-Feb;22(1):48-51. PMID: 11744854

Hypoplasia of bilateral humeral trochlea associated with bilateral ulnar nerve palsy.

Kaneko K, Takahashi S, Tobe M, Ohbayashi O, Kurosawa H
Arch Orthop Trauma Surg 2000;120(10):603-4. doi: 10.1007/s004020000147. PMID: 11110147

See all (4)

Diagnosis