Rare diseases · Sign or symptom
Neonatal respiratory distress
Infantile respiratory distress
HP:0002643
What it means
Respiratory difficulty as newborn.
Rare diseases that can present with this38
Very common80–99%
6Common30–79%
18- Autosomal recessive multiple pterygium syndrome
- Axial spondylometaphyseal dysplasia
- Braddock syndrome
- Brain-lung-thyroid syndrome
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital-onset Steinert myotonic dystrophy
- Isolated Pierre Robin sequence
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Maternal uniparental disomy of chromosome 2 syndrome
- Omphalocele syndrome, Shprintzen-Goldberg type
- Pericardial and diaphragmatic defect
- Primary ciliary dyskinesia
- Primary pulmonary hypoplasia
- Proximal spinal muscular atrophy
- Pyridoxine-dependent-developmental and epileptic encephalopathy
- Renal-hepatic-pancreatic dysplasia
- Richieri Costa-Pereira syndrome
Sometimes5–29%
10- Brachytelephalangic chondrodysplasia punctata
- Congenital tracheomalacia
- Intrahepatic cholestasis of pregnancy
- Laryngotracheoesophageal cleft
- Lethal infantile mitochondrial myopathy
- Metaphyseal chondrodysplasia, Jansen type
- Pyruvate dehydrogenase E1-alpha deficiency
- Renal hypoplasia, bilateral
and 2 more in this range
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: Newborn respiratory distress · Respiratory distress, neonatal
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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.