multiple pterygium-malignant hyperthermia syndrome
Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015168
arthrogryposis multiplex congenita
is_a
MONDO:0100545
hereditary neurological disease
is_a
froster-Iskenius-Waterson syndrome
related
froster-Iskenius-Waterson-Hall syndrome
exact
malignant hyperthermia - arthrogryposis - torticollis
related
malignant hyperthermia arthrogryposis torticollis
related
malignant hyperthermia-arthrogryposis-torticollis syndrome
exact