Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial ray was predominantly affected than the right. All affected cases showed evidence of upper limb involvement. Cardiac defects were seen in 95% of familial cases and included both atrial septal defect (ASD, 34%) and ventricular septal defect (VSD, 25%); 39% had only ECG changes. Cardiac involvement ranged from asymptomatic conduction disturbances to multiple structural defects requiring surgery in infancy. Sudden death could be caused by heart block. Inheritance was autosomal dominant with 100% penetrance and no evidence of reduced fitness. Increasing severity occurred in succeeding generations consistent with anticipation.
 ...
PMID:Holt-Oram syndrome: a clinical genetic study. 873 Feb 85

Holt-Oram syndrome, first described in 1960, is one of many heart-hand syndromes. Upper limb involvement, predominantly radial, is universal, bilateral and asymmetrical, with variable severity. Cardiac defects occur in 95% of familial cases. Inheritance is autosomal dominant with 100% penetrance and no evidence of reduced fitness. Mutations in TBX5 have been reported in Holt-Oram syndrome. This study was conducted to establish whether a particular facial appearance is associated with Holt-Oram syndrome, one which might facilitate early diagnosis and aid differentiation from other heart-hand syndromes. Twenty-five individuals were evaluated, age 11 months to 70 years. A complete dysmorphological examination was carried out, serial photographs were reviewed, and a series of anthropometric craniofacial measurements was obtained. Subjectively, the face is square with a broad lower jaw and parietal bossing. The forehead is prominent and tall. There is narrowing at the temples. Eyes seem close-set. The nose appears relatively long, with a wide base, and short columella. With age the face becomes longer and more oval. Our anthropometric approach confirms certain clinical impressions. However, there is no objective evidence for increased face or nose height, two of the most striking features of the "gestalt." Nasal height is, in fact, reduced at all ages. There does not appear to be a syndrome-specific pattern profile to facilitate the discrimination of this condition from other heart-hand syndromes.
 ...
PMID:Holt-Oram syndrome: is there a "face"? 1268 61