Synonym(s): - Growth delay - alopecia - pseudoanodontia - optic atrophy
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare odontologic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ANTXR1	Q9H6X2	606410

- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Alopecia
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad forehead
- Decreased body hair / axillar / pubic hairlessness
- Delayed bone age
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed nasal bridge
- Everted lower lip
- Flared / thick ala nasi
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- High forehead
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Long philtrum
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Premature ageing
- Protruding lips
- Puffy eyelids
- Short stature / dwarfism / nanism

- Anomalies of chest / thorax / trunk
- Anomalies of spine, vertebrae and pelvis
- Cerebral vascular anomalies
- Clavicle absent / abnormal
- Glaucoma
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Keratoconus / keratoglobus
- Metaphyseal anomaly
- Pedunculated skin lesions
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Prognathism / prognathia
- Storage liver disease
- Umbilical hernia
- Visual loss / blindness / amblyopia

- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Asymmetric rib cage / thorax
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Choanal atresia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Irregular / patchy skin hypopigmentation
- Late puberty / hypogonadism / hypogenitalism
- Myopia
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Poorly ossified skull / calvarium
- Precocious menopause / secondary amenorrhea
- Urinary / renal lithiasis / kidney stones / nephritic colic