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
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)