U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Arthrogryposis, congenital, lower limb, X-linked(AMCX5, FORMERLY; ACLLX)

MedGen UID:
339477
Concept ID:
C1846273
Disease or Syndrome
Synonyms: ACLLX; ARTHROGRYPOSIS, X-LINKED, TYPE V
 
Monarch Initiative: MONDO:0010260
OMIM®: 300158

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Ankle flexion contracture
MedGen UID:
332440
Concept ID:
C1837407
Anatomical Abnormality
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Arthrogryposis multiplex congenita
MedGen UID:
2455
Concept ID:
C0003886
Finding
Multiple congenital contractures in different body areas.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality

Recent clinical studies

Etiology

Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT
J Clin Endocrinol Metab 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631. PMID: 31504653Free PMC Article

Clinical prediction guides

Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT
J Clin Endocrinol Metab 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631. PMID: 31504653Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...