Rare diseases · Sign or symptom
Respiratory distress
Breathing difficulties
HP:0002098
What it means
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Rare diseases that can present with this154
Very common80–99%
20- Agnathia-holoprosencephaly-situs inversus syndrome
- Bronchopulmonary dysplasia
- Colchicine poisoning
- Congenital alveolar capillary dysplasia
- Congenital lobar emphysema
- Congenital pulmonary lymphangiectasia
- Congenital total pulmonary venous return anomaly
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Diaphanospondylodysostosis
- Hypomyelination neuropathy-arthrogryposis syndrome
- Imperforate oropharynx-costovertebral anomalies syndrome
- Microlissencephaly-micromelia syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- Radio-renal syndrome
- SLC35A1-CDG
- Staphylococcal necrotizing pneumonia
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
Common30–79%
54- Acute lung injury
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Airway infantile hemangioma
- Anaplastic thyroid carcinoma
- Aortic arch interruption
- Auriculocondylar syndrome
- Bacterial toxic-shock syndrome
- Brain-lung-thyroid syndrome
- Congenital diaphragmatic hernia
- Congenital tracheal stenosis
- Craniofaciofrontodigital syndrome
- Ear-patella-short stature syndrome
- Folinic acid-responsive seizures
- Gaucher disease type 2
- Generalized arterial calcification of infancy
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Hereditary pulmonary alveolar proteinosis
- Holocarboxylase synthetase deficiency
- Idiopathic hypereosinophilic syndrome
- Infantile-onset X-linked spinal muscular atrophy
- Inhalational anthrax
- Isolated arrhinia
- Isolated ATP synthase deficiency
- Isolated congenital hypoglossia/aglossia
- Isolated congenital laryngeal web
- Lethal recessive chondrodysplasia
- Malaria
- Meconium aspiration syndrome
- Mercury poisoning
- Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Osteosclerotic bone dysplasia
- Paternal 20q13.2q13.3 microdeletion syndrome
- Pleural mesothelioma
- Prader-Willi syndrome due to translocation
- Recurrent respiratory papillomatosis
- Renin-angiotensin-aldosterone system-blocker-induced angioedema
- Rubinstein-Taybi syndrome
- Severe acute respiratory syndrome
- Severe congenital nemaline myopathy
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Severe X-linked mitochondrial encephalomyopathy
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- STT3B-CDG
- Stüve-Wiedemann syndrome
- Synaptic congenital myasthenic syndrome
- Tetrasomy 5p syndrome
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- Ulbright-Hodes syndrome
- Univentricular heart
- Vitamin B12-unresponsive methylmalonic acidemia type mut0
- X-linked centronuclear myopathy
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: Labored breathing · Laboured breathing
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.