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Start free with EleplanRapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
ORPHA:293987Disease
Also called ROHHAD · ROHHADNET · Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
What it is
A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Unknown
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
29- Abnormal autonomic nervous system physiology
- Abnormality of midbrain morphology
- Abnormality of the hypothalamus-pituitary axis
- Anteverted nares
- Autistic behavior
- Central hypothyroidism
- Central hypoventilation
- Cyanosis
- Decreased lacrimation
- Decreased response to growth hormone stimulation test
- Depressed nasal bridge
- Elevated circulating hepatic transaminase concentration
- Feeding difficulties
- Gonadotropin deficiency
- Hyperglycemia
- Hyperlipidemia
- Hypertelorism
- Hypohidrosis
- Hyponatremia
- Hypoventilation
- Intellectual disability, moderate
- Macrocephaly
- Obesity
- Polyphagia
- Premature adrenarche
- Prominent forehead
- Reduced social responsiveness
- Sensorineural hearing impairment
- Widened subarachnoid space
Common30–79%
22- Abnormal pupillary light reflex
- Accelerated skeletal maturation
- Adrenocorticotropic hormone deficiency
- Aggressive behavior
- Asthma
- Central diabetes insipidus
- Developmental regression
- Everted lower lip vermilion
- Fever
- Ganglioneuroblastoma
- Ganglioneuroma
- Gastrointestinal dysmotility
- Global developmental delay
- Hypothermia
- Impaired pain sensation
- Increased circulating prolactin concentration
- Obstructive sleep apnea
- Polydipsia
- Recurrent lower respiratory tract infections
- Recurrent upper respiratory tract infections
- Scoliosis
- Short stature
Sometimes5–29%
14- Brachydactyly
- Cardiorespiratory arrest
- Celiac disease
- Compulsive behaviors
- Delayed puberty
- Depression
- Emotional lability
- Enuresis
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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