Phenotype #0000299775
| Individual ID |
00398645 |
| Associated disease |
dysplasia, bone |
| Diagnosis/Initial |
kyphomelic dysplasia |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., no intellectual disability; no developmental delay; no neurological symptoms; conductive hearing impairment, hyperopia; respiratory disorders in neonatal period; joint contracture knee/hip; 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; cleft palate; intermittent esotopia; no brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; no platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, 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 23:39:22 +02:00 (CEST) |
| Date last edited |
2025-03-31 15:32:44 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
