Preferred Label : Contractures, congenital, torticollis, and malignant hyperthermia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Froster-Iskenius et al. (1988) described 2 unrelated families, each with 2 affected
sibs with an apparently 'new' type of arthrogryposis. The first family had affected
brother and sister, the second family 2 affected brothers. Cleft palate was present
in both members of the first family. Axillary webbing was present in 3 of the 4. The
brother and sister developed malignant hyperthermia in response to anesthesia; anesthesia
was avoided in the second family. Two natal teeth were present in 1 of the patients;
the second patient could not open her mouth fully. Froster-Iskenius et al. (1988)
believed that this disorder is distinct from the King syndrome (145600) as well as
from the multiple pterygium syndrome. Robinson et al. (1987) described a lethal form
of multiple pterygium syndrome associated with malignant hyperthermia. Two sibs, a
male born live at 33 weeks' gestation and a stillborn female delivered at 25 weeks'
gestation, were reported. *FIELD* RF 1. Froster-Iskenius, U. G.; Waterson, J. R.;
Hall, J. G.: A recessive form of congenital contractures and torticollis associated
with malignant hyperthermia. J. Med. Genet. 25: 104-112, 1988. 2. Robinson, L. K.;
O'Brien, N. C.; Puckett, M. C.; Cox, M. A.: Multiple pterygium syndrome: a case complicated
by malignant hyperthermia. Clin. Genet. 32: 5-9, 1987. *FIELD* CS Limbs: Arthrogryposis;
Axillary webbing;
Inheritance : Autosomal recessive;
Prefixed ID : 217150;
Origin ID : 217150;
UMLS CUI : C1857576;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
