The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

Abstract

We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudo-camptodactyly syndrome, congenital contractural arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.

Distal arthrogryposis type IIB in a girl: Autosomal recessive inheritance?

“…She also shows mental retardation, short stature and craniofacial abnormalities including a mask-like face, ptosis, blephalophimosis, epicanthal folds, large prominent ears, a short neck and abnormal dermal patterns (Hall et aL, 1982). In addition, she exhibits several clinical features not described previously in patients with the disease.…”

“…These features include delayed osseous maturation, a preauricular pit, a narrow and high-arched palate, pectus carinatum, stiff linea alba, and a sacral dimple. Hall et aL (1982) cited eight patients who fit the diagnosis of arthrogryposis type IIB, three of whom were of their own patients and five whose case were documented in the literature. Of these, five came from two families: a family with an affected father, daughter and son (Aase and Smith, 1968) and another family with an affected mother and daughter (Hall et aL, 1982).…”

“…Hall et aL (1982) cited eight patients who fit the diagnosis of arthrogryposis type IIB, three of whom were of their own patients and five whose case were documented in the literature. Of these, five came from two families: a family with an affected father, daughter and son (Aase and Smith, 1968) and another family with an affected mother and daughter (Hall et aL, 1982). The patient reported by Bijlsma (1980), an 8-year-old boy, had a mother with a cleft lip and a father with camptodactyly.…”

“…Distal arthrogryposes, congenital contractures of the hands and feet, are classified into two groups: type I, with distal limb contractures, and type II, with distal limb contractures and additional manifestations (Hall et aL, 1982). Distal arthrogryposis type II is further divided into five subgroups, IIA through E, according to the respective additional cardinal malformations, such as cleft palate and short stature (IIA), ptosis (IIB), cleft lip and palate (IIC), scoliosis (IID) and trismus (IIE).…”

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

“…The gene is known to be involved in DA) syndromes that constitute a group of disorders characterized by multiple congenital contractures of the upper and lower limbs. [7][8][9][10] Variants in MYH3 cause DA1 (OMIM #108120), 11,12 DA2A (Freeman-Sheldon syndrome; OMIM #193700) [13][14][15] and DA2B (Sheldon-Hall syndrome; OMIM #601680). 16,17 Interestingly, recent findings from Chong et al 18 indicate that MYH3 is also involved in autosomal dominant MPS that, in addition to congenital contractures of the limbs, is characterized by multiple pterygia and skeletal anomalies including fusion of vertebra and scoliosis.…”