Synonym(s): (no synonyms)
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Diseases of the nervous system - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C536214
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CRLF1	O75462	604237

- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Camptodactyly of some fingers
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperhidrosis / increased sweating
- Hypertonia / spasticity / rigidity / stiffness
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Kyphosis
- Large face
- Long philtrum
- Malignant hyperthermia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis

- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Restricted joint mobility / joint stiffness / ankylosis

- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Seizures / epilepsy / absences / spasms / status epilepticus