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| Disease found: | Deoxyhypusine synthase disorder |
| Current as of: | October 8, 2024 |
| Disease Overview: | Amino acid synthesis disorder leading to neurodevelopmental delays and motor impairments |
| Signs and Symptoms: | Symptoms begin in childhood and may include neurodevelopmental delays, poor or absent speech, delayed walking, unsteady gait, spasticity, seizures, short stature, failure to thrive, constipation, abnormal curving of the 5th finger, hypotonia, facial differences that may include low-set ears, deep-set eyes, prominent skinfolds below the lower eyelid, prominent nasal bridge, and high arched palate |
| Diagnosis: | Molecular genetic testing for pathogenic variants in the DHPS gene |
| Treatment: | Supportive |
| Clinical Management: | Speech, PT, OT, augmentative and alternative communication devices |
| Referral: | Genetic counseling. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | No clinical trials currently recruiting |