Symptoms of Acroosteolysis dominant type
Symptoms
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database.
Signs and Symptoms
- Aplasia/Hypoplasia of the distal phalanges of the toes
- Brachydactyly syndrome
- Decreased skull ossification
- Hypertelorism
- Long philtrum
- Osteolysis
- Periodontitis
- Reduced bone mineral density
- Short distal phalanx of finger
- Short toe
- Telecanthus
- Thick eyebrow
- Wormian bones
- Abnormal form of the vertebral bodies
- Abnormality of frontal sinus
- Abnormality of the fingernails
- Anteverted nares
- Arnold-Chiari malformation
- Arthralgia
- Bone pain
- Coarse facial features
- Dental malocclusion
- Dolichocephaly
- Downturned corners of mouth
- Full cheeks
- Hearing impairment
- Joint hypermobility
- Macrocephaly
- Narrow mouth
- Prominent occiput
- Scoliosis
- Short neck
- Thin vermilion border
- Abnormality of the aortic valve
- Abnormality of the voice
- Bowing of the long bones
- Cataract
- Clubbing of toes
- Coarse hair
- Craniofacial hyperostosis
- Displacement of the external urethral meatus
- Dry skin
- Hepatomegaly
- Hydrocephalus
- Hypoplasia of the zygomatic bone
- Intestinal malrotation
- Iris coloboma
- Kyphosis
- Low anterior hairline
- Low-set, posteriorly rotated ears
- Migraine
- Mitral stenosis
- Myopia
- Neurological speech impairment
- Patellar dislocation
- Patent ductus arteriosus
- Pectus carinatum
- Peripheral neuropathy
- Polycystic kidney dysplasia
- Recurrent fractures
- Recurrent respiratory infections
- Skin ulcer
- Splenomegaly
- Synophrys
- Syringomyelia
- Thickened skin
- Umbilical hernia
- Ventricular septal defect
- Wide nasal bridge
- Abnormality of the cardiac septa
- Absent frontal sinuses
- Autosomal dominant inheritance
- Basilar impression
- Biconcave vertebral bodies
- Cervical instability
- Conductive hearing impairment
- Crowded carpal bones
- Cryptorchidism
- Dislocated radial head
- Elongated sella turcica
- Epicanthus
- Failure to thrive
- Foot acroosteolysis
- Genu valgum
- High palate
- Hirsutism
- Hypospadias
- Inguinal hernia
- Joint laxity
- Juvenile onset
- Kyphoscoliosis
- Large earlobe
- Long eyelashes
- Low-set ears
- Osteolytic defects of the phalanges of the hand
- Osteopenia
- Osteoporosis
- Pathologic fracture
- Premature loss of teeth
- Renal cyst
- Short nail
- Short stature
- Tall lumbar vertebral bodies
- Vertebral compression fractures
- Wide nose
Last updated: 1/1/2017
Source: GARD (NIH)1
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Back to: « Acroosteolysis dominant type
Back to: « Acroosteolysis
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Symptoms and clinical features of the condition may include:2 Clinical Features of Acroosteolysis dominant type:
- Inguinal hernia
- Hypospadias
- Narrow mouth
- Cleft palate
- Thin vermilion border
- Hydrocephalus
- Macrocephaly
- Dolichocephaly
- Prominent occiput
- Coarse facial features
- Full cheeks
- Low anterior hairline
- Hypertelorism
- Long philtrum
- Micrognathia
- Hearing impairment
- Low-set ears
- Wide nasal bridge
- Wide nose
- Anteverted nares
- Short neck
- Downslanted palpebral fissures
- Telecanthus
- Cataract
- Myopia
- Thick eyebrow
- Iris coloboma
- Synophrys
- Periodontitis
- Pectus carinatum
- Delayed puberty
- Osteopenia
- Osteoporosis
- Dry skin
- Thickened skin
- Brachydactyly
- Abnormality of the fingernails
- Failure to thrive
- Umbilical hernia
- Abnormality of the voice
- Ventricular septal defect
- Patent ductus arteriosus
- Aortic valve stenosis
- Mitral stenosis
- Splenomegaly
- Short toe
- Recurrent respiratory infections
- Coarse hair
- Generalized hirsutism
- Hepatomegaly
- Arnold-Chiari malformation
- Headache
- Intestinal malrotation
- Wormian bones
- Scoliosis
- Skeletal dysplasia
- Bone pain
- Absent frontal sinuses
- Platybasia
- Downturned corners of mouth
- Recurrent fractures
- Osteolysis
- Kyphosis
- Arthralgia
- Patellar dislocation
- Syringomyelia
- Short stature
- Decreased skull ossification
- Biconcave vertebral bodies
- Multiple renal cysts
- Joint hyperflexibility
- Bowing of the long bones
- Hypoplastic 5th lumbar vertebrae
- Peripheral neuropathy
- Short distal phalanx of finger
- Hypoplasia of the zygomatic bone
- Open bite
- Partial absence of toe
- Rough bone trabeculation
- Skin ulcer
Symptoms
Read more about symptoms of related disorders:
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References
- Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 508/ acroosteolysis-dominant-type
- Source: Human Phenotype Ontology
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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.