primordial dwarfism and slender bone disorder
MONDO:0800063Mondo
Findings
No curated finding names primordial dwarfism and slender bone disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.
Definition from the Mondo Disease Ontology (MONDO:0800063), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (26)
- 3M syndrome 1
- 3M syndrome 2
- 3M syndrome 3
- Hallermann-Streiff syndrome
- hypoparathyroidism-retardation-dysmorphism syndrome
- IMAGe syndrome
- intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- Kenny-Caffey syndrome
- Lowry-Wood syndrome
- microcephalic osteodysplastic dysplasia, Saul-Wilson type
- microcephalic osteodysplastic primordial dwarfism type II
- microcephalic osteodysplastic primordial dwarfism types I and III
- microcephalic primordial dwarfism due to RTTN deficiency
- microcephalic primordial dwarfism, Alazami type
- microcephalic primordial dwarfism, Toriello type
- microcephaly 13, primary, autosomal recessive
- osteocraniostenosis
- Roifman syndrome
- Rothmund-Thomson syndrome type 3
- Seckel syndrome 10
- Seckel syndrome 2
- Seckel syndrome 5