Clinical features at first diagnosis in 34 Yakut patients with short stature with optic atrophy and Pelger–Huët anomaly (SOPH) syndrome
| Frequency; numbers of patients who had each clinical feature (percentage) | |||
| Sex | Total | ||
| Women | Men | ||
| Number of patients | 22 | 12 | 34 |
| Constitution | |||
| Normal length at birth | 11 (50) | 9 (75) | 20 (58) |
| Postnatal growth failure | 22 (100) | 12 (100) | 34 (100) |
| Craniofacial features | |||
| Brachycephalic skull | 20 (90.9) | 10 (83.3) | 30 (88.2) |
| Hypoplasia of frontal and parietal tubers | 20 (90.9) | 11 (92) | 31 (91.2) |
| Narrow forehead | 20 (90.9) | 11 (91.7) | 31 (91.2) |
| Long senile face | 21 (95.4) | 12 (100) | 33 (97.1) |
| Small features of face | 19 (86.4) | 10 (83.3) | 29 (85.3) |
| Facial asymmetry | 19 (86.4) | 5 (41.7) | 24 (70.6) |
| Straight nose with prominent glabella | 19 (86.4) | 12 (100) | 31 (91.2) |
| Thick/bushy eyebrows | 15 (68.2) | 9 (75) | 24 (70.6) |
| Small orbit | 22 (100) | 11 (91.7) | 33 (97.1) |
| Bilateral exophthalmos | 20 (90.9) | 11 (91.7) | 31 (91.2) |
| Hypertelorism | 3 (13.6) | 2 (16.7) | 5 (14.7) |
| Epicanthus | 16 (72.7) | 6 (50) | 22 (64.7) |
| Hypoplastic cheekbone | 21 (95.4) | 12 (100) | 33 (97.1) |
| Long philtrum | 19 (86.4) | 9 (75.0) | 28 (82.4) |
| Thin lips | 20 (90.9) | 8 (66.7) | 28 (82.4) |
| Body and extremity features | |||
| Short neck | 19 (86.4) | 11 (91.7) | 30 (88.2) |
| Loose and senile skin | 22 (100) | 12 (100) | 34 (100) |
| Depressed turgor of tissue | 22 (100) | 12 (100) | 34 (100) |
| Fine hair | 17 (77.3) | 8 (66.7) | 25 (73.5) |
| Hypermobility of small joints | 20 (90.9) | 10 (83.3) | 30 (88.2) |
| Muscular hypotonia | 18 (81.8) | 10 (83.3) | 28 (82.4) |
| Micromelia | 22 (100) | 12 (100) | 34 (100) |
| Brachydactyly | 22 (100) | 12 (100) | 34 (100) |
| Syndactyly | 1 (4.6) | 1 (8.3) | 2 (5.9) |
| Simian crease | 3 (13.6) | 2 (16.7) | 5 (14.7) |
| Wide feet with high arch | 19 (86.4) | 11 (91.7) | 30 (88.2) |
| Sandal chink | 18 (81.8) | 8 (66.7) | 26 (76.5) |
| Wide big toe | 18 (81.8) | 8 (66.7) | 26 (76.5) |
| Ophthalmological findings | |||
| Bilateral optic nerve atrophy | 22 (100) | 12 (100) | 34 (100) |
| Strabismus | 6 (27.2) | 3 (25.0) | 9 (26.5) |
| Pigmented nevus | 1 (4.6) | 1 (8.3) | 2 (5.9) |
| Myopia | 9 (40.9) | 3 (25.0) | 12 (35.3) |
| Hypermetropia | 1 (4.6) | 2 (16.7) | 3 (8.8) |
| Radiological findings | |||
| Delay of chronological age | 7 (31.8) | 7 (58.3) | 14 (41.2) |
| Neurological findings | |||
| Normal intellectual function | 21 (95.5) | 12 (100) | 33 (97.1) |
| Pathology of other systems | |||
| High voice with harsh timber | 21 (95.5) | 11 (91.7) | 32 (94.1) |
| Hypoplasia of uterus | 4 (18.2) | 0 | 4 (11.8) |
| Insulin dependent diabetes | 2 (9.1) | 0 | 2 (5.9) |
| Hypoplasia of thyroid gland | 2 (9.1) | 1 (8.3) | 3 (8.8) |