Phenotype #0000299778
| Individual ID |
00398648 |
| Associated disease |
dysplasia, bone |
| Diagnosis/Initial |
Kyphomelic dysplasia |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; tracheomalacia; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; no anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Toshiyuki Itai |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Toshiyuki Itai |
| Date created |
2022-04-06 23:50:49 +02:00 (CEST) |
| Date last edited |
2025-03-31 15:33:37 +02:00 (CEST) |
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