Rare diseases · Sign or symptom
Respiratory insufficiency
Respiratory impairment
HP:0002093
Rare diseases that can present with this176
Very common80–99%
43- Anti-glomerular basement membrane disease
- Antisynthetase syndrome
- Autosomal recessive spondylocostal dysostosis
- Beemer-Ertbruggen syndrome
- Campomelic dysplasia
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine-acylcarnitine translocase deficiency
- Cartilage-hair hypoplasia
- Congenital central hypoventilation syndrome
- Congenital lethal erythroderma
- Crisponi syndrome
- Distal deletion 17q syndrome
- Duchenne muscular dystrophy
- Ebstein malformation of the tricuspid valve
- Edinburgh malformation syndrome
- Encephalopathy due to prosaposin deficiency
- Fetal akinesia deformation sequence
- Glaucoma-sleep apnea syndrome
- Hartsfield syndrome
- HEC syndrome
- Idiopathic acute eosinophilic pneumonia
- Indomethacin embryofetopathy
- Isolated complex I deficiency
- Laryngotracheoesophageal cleft type 4
- Larynx atresia
- Lethal hemolytic anemia-genital anomalies syndrome
- Locked-in syndrome
- Lung agenesis-heart defect-thumb anomalies syndrome
- Maple syrup urine disease
- MECP2-related severe neonatal encephalopathy
- Opsismodysplasia
- Rigid spine syndrome
- Ring chromosome 6 syndrome
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Symmetrical thalamic calcifications
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Thoraco-abdominal enteric duplication
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- Tracheal agenesis
- Vitamin B12-responsive methylmalonic acidemia
- Vitamin B12-unresponsive methylmalonic acidemia
- Zellweger syndrome
Common30–79%
37- 46,XX difference of sex development-anorectal anomalies syndrome
- Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Atelosteogenesis type III
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cutis laxa type 1
- Beta-thalassemia
- Botulism
- Bruck syndrome
- Chronic beryllium disease
- Congenital muscular dystrophy due to LMNA mutation
- Congenital tracheomalacia
- Congenital unilateral hypoplasia of depressor anguli oris
- Cooper-Jabs syndrome
- Criss-cross heart
- Cystic hamartoma of lung and kidney
- Dermatomyositis
- Dubowitz syndrome
- FATCO syndrome
- Fibrochondrogenesis
- Fibrodysplasia ossificans progressiva
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- GMS syndrome
- Granulomatosis with polyangiitis
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Infantile-onset X-linked spinal muscular atrophy
- Jeune syndrome
- Keppen-Lubinsky syndrome
- Laryngeal abductor paralysis
- Legionnaires disease
- Lower limb malformation-hypospadias syndrome
- Lysinuric protein intolerance
- Macrosomia-microphthalmia-cleft palate syndrome
- Multiminicore myopathy
- Muscle filaminopathy
- Nager 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: Respiratory function loss
Respiratory insufficiency
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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.