Rare diseases · Sign or symptom
Failure to thrive in infancy
Faltering weight in infancy
HP:0001531
Rare diseases that can present with this77
Very common80–99%
13- 21q deletion syndrome
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Baller-Gerold syndrome
- Cardiofaciocutaneous syndrome
- Costello syndrome
- Infantile neurovisceral acid sphingomyelinase deficiency
- Lambert syndrome
- Pelizaeus-Merzbacher disease
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
- Rubinstein-Taybi syndrome
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Syndromic multisystem autoimmune disease due to Itch deficiency
- Williams syndrome
Common30–79%
44- 17q24.2microdeletion syndrome
- 20p13microdeletion syndrome
- 20q13.33microdeletion syndrome
- 21q22.11q22.12microdeletion syndrome
- 3-methylcrotonyl-CoA carboxylase deficiency
- Addison disease
- Allan-Herndon-Dudley syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Beta-thalassemia major
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- COG4-CDG
- Cohen syndrome
- C syndrome
- Deletion 5q35 syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Esophageal atresia
- Free sialic acid storage disease
- Fumaric aciduria
- Generalized pseudohypoaldosteronism type 1
- Hepatic veno-occlusive disease-immunodeficiency syndrome
- Hereditary pulmonary alveolar proteinosis
- Hypophosphatasia
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- MEGDEL syndrome
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Mitochondrial trifunctional protein deficiency
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Multiple mitochondrial dysfunctions syndrome type 1
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Osteoglosphonic dysplasia
- PMP22-RAI1 contiguous gene duplication syndrome
- Schinzel-Giedion syndrome
- Silver-Russell syndrome
- SLC35A2-CDG
- SLC39A8-CDG
- Smith-Magenis syndrome
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- Triple A syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- X-linked adrenal hypoplasia congenita
- X-linked intellectual disability, Schimke type
- ZTTK syndrome
The 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: Failure to thrive in first year of life · Weight faltering in infancy
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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.