Rare diseases · Sign or symptom
Thyroid hypoplasia
Small thyroid gland
HP:0005990
What it means
Developmental hypoplasia of the thyroid gland.
Rare diseases that can present with this11
Common30–79%
5- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Holoprosencephaly-postaxial polydactyly syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Resistance to thyrotropin-releasing hormone syndrome
Sometimes5–29%
3The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hypoplastic thyroid
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.