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
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)

Global Variome shared LOVD