| Chondrodysplasia |
OMIM number (*) |
Clinical phenotype
(main features) |
Lethality |
Mutated gene |
Inheritance pattern |
| Achondrogenesis type IA (Houston-Harris type) |
200600 |
Severe micromelia; macrocephaly; flattened nasal bridge; small thoracic cage; prominent abdomen. |
Prenatal/perinatal |
TRIP11
[Thyroid hormone receptor interactor 11] |
Autosomal recessive (**) |
| Achondrogenesis type IB (Fraccaro type) |
600972 |
Severe micromelia; macrocephaly; flattened nasal bridge; small thoracic cage; prominent abdomen. |
Prenatal/perinatal |
SLC26A2
[Solute carrier family 26 (sulfate transporter), member 2] |
Autosomal recessive (**) |
| Achondrogenesis type II (Langer-Saldino type) |
200610 |
Micromelia; macrocephaly; flattened nasal bridge;small thoracic cage; prominent abdomen; cleft palate. |
Prenatal/neonatal |
COL2A1
[Collagen, type II, alpha-1] |
Autosomal dominant (**) |
| Homozigousachondroplasia |
100800 |
Micromelia; macrocephaly; flattened nasal bridge;small thoracic cage; prominent abdomen. |
Usually neonatal (only homozygotes). Heterozygous achondroplasia is non- lethal and is the most common form of human dwarfism. |
FGFR3 |
Autosomal dominant (**) |
| Thanatophoric dysplasia, type I |
187600 |
Micromelia; macrocephaly; flattened nasal bridge;small thoracic cage; prominent abdomen. |
Usually perinatal |
FGFR3
[Fibroblast growth factor receptor 3] |
Autosomal dominant (**) |
| Thanatophoric dysplasia, type II |
187601 |
Micromelia; macrocephaly; flattened nasal bridge;small thoracic cage; prominent abdomen. |
Usually perinatal |
FGFR3
[Fibroblast growth factor receptor 3] |
Autosomal dominant (**) |
| Thanatophoric dysplasia, Glasgow variant |
273680 |
Micromelia; macrocephaly; flattened nasal bridge;small thoracic cage; prominent abdomen. |
Neonatal |
FGFR3 (likely) |
Autosomal recessive (*) |
| (*) Reference 24; (**) Reference 2. |
