Phenotype #0000299776
| Individual ID |
00398646 |
| Associated disease |
dysplasia, bone |
| Diagnosis/Initial |
kyphomelic dysplasia |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no intellectual disability; no developmental delay; febrile seizures, epilepsy; velopharyngeal insufficiency, astigmatism; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; no bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; no micrognathia; no small mouth with thin upper lip; no cleft palate; no intermittent esotopia; narrow thorax; no hooked clavicles; no short, wavy ribs; no anteriorly cupped ribs; no platyspondyly; kyphoscoliosis; no large pedicles; iliac flaring; no horizontal acetabular roof; limbs humeral bowing, no radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; no 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 23:45:12 +02:00 (CEST) |
| Date last edited |
2025-03-31 15:33:04 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
