Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Research Centre for Medical Genetics, |
RCV000234939 | SCV000292035 | pathogenic | Autosomal Recessive Hypotrichosis with Woolly Hair | 2016-02-20 | criteria provided, single submitter | research | Affected individuals demonstrated the following: • Isolated congenital WH. • Scalp hair length of approximately 5–15 cm. • Decreasing trend in follicle density from the occipital to frontotemporal scalp region from 210 to 90 cm−2, respectively (with a norm being in the range of 175–300 follicles cm−2 (Barman et al., 1965)). • Frontotemporal hairline close to normal. • Uniform hair rigidity in different scalp regions; the rate of hair growth was higher than in group 1 (individuals had a haircut every 3–4 years); • Body hair distribution was similar to that in the hypotrichosis 7 group; • Trichogram showed 25–30% hairs in telogen and 70–75% in anagen phases. • Hair light microscopy with slight dystrophic changes in the form of irregular wavy contours, along with relatively rare HS fractures and trichorrhexis nodosa. Seventy percent of hair shafts were abnormal. • Tracing of the phenotypic changing throughout the lifetime was not possible; nonetheless interviewing the members in this group suggested an absence of the hypotrichosis progression. |
| OMIM | RCV000490551 | SCV000577908 | pathogenic | Wooly hair, autosomal recessive 3 | 2017-05-24 | no assertion criteria provided | literature only |