Phenotype #0000299073
| Individual ID |
00406598 |
| Associated disease |
ACH |
| Phenotype details |
see paper; ..., short at birth; normal motor and mental milestones; height was 67.5 cm (-7.1 SD), short limbs, OFC 47 cm; acromesomelia, facial abnormalities, frontal bossing, prominent eyes, hypertelorism, flat nasal bridge, anteverted nostrils, folded low set ears, tented upper lip, wide mouth, gum hypertrophy suggestive of 'fetal facies'; thoracolumbar scoliosis, small hands, small penis (stretched penile length 1 cm), retractile testes; X-ray large cranium, crowded right sided ribs, absent left ribs 3 and 4, marked thoracic scoliosis to the right, lumbar scoliosis to the left, thoracic and lumbar hemivertebrae, short radius, short ulna; upper limb mesomelia more severe than lower limb; USG normal, ECG normal |
| Diagnosis/Initial |
achondroplasia (prenatal) |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
RRS1 |
| Age/Examination |
02y06m (2 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
short stature, facial dysmorphism |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-04-01 16:02:57 +02:00 (CEST) |
| Date last edited |
N/A |
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