PedAM
Pediatric Disease Annotations & Medicines
| Disease | dwarfism |
| Phenotype | C0221355|macrocephaly |
| Sentences | 2 |
| PubMedID- 24124006 | We therefore report a novel autosomal recessive syndrome characterized by postnatal short stature with relative macrocephaly, camptodactyly, septal heart defect and several minor anomalies caused by biallelic mutations in sema3a. |
| PubMedID- 26182483 | The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration. |
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