Synonym(s): - Kinky hair disease - Kinky hair syndrome - MD - MK - MNK - Menkes syndrome - Steely hair disease - Steely hair syndrome - Trichopoliodystrophy - X-linked copper deficiency
Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ATP7A	Q04656	300011

- Absent / hypotonic / flaccid abdominal wall muscles
- Arterial aneurism (excluding aorta)
- Asthenia / fatigue / weakness
- Broad cheeks / cherub-like / cherubin face
- Decreased hair pigmentation / hypopigmentation of hair
- Dry / squaly skin / exfoliation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Herniae
- High vaulted / narrow palate
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Inguinal / inguinoscrotal / crural hernia
- Intracranial / cerebral / meningeal hemorrhage
- Microcephaly
- Motor deficit / trouble
- Pectus excavatum
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus
- Umbilical hernia
- Woolly / frizzy hair
- X-linked recessive inheritance

- Abnormal scarring / cheloids / hypertrophic scars
- Arterial stenosis / occlusion
- Carotid artery anomalies
- Enlargment of jaw / large jaw
- Exostoses
- Expressionless face / amimia
- Hepatitis / icterus / cholestasis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Malabsorption / chronic diarrhea / steatorrhea
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle weakness / flaccidity
- Narrow rib cage / thorax
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Prominent occiput / occipital bossing
- Psychic / behavioural troubles
- Thick skin / pachydermia / orange skin
- Varices / varicous veins / venous insufficiency
- Wormian bones

- Bladder / vesical diverticulum
- Bowed diaphysis / diaphyses / long bones
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hematomas
- Hypoglycemia
- Hypothermia
- Intrauterine growth retardation
- Mutiple fractures / bone fragility
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Periarticular tissue anomaly / extraarticular calcifications
- Sepsis severe / septicemia
- Tarsal anomaly / fusion / synostosis