Clinical Signs and Symptoms
ORPHA:168549 Axial spondylometaphyseal dysplasia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the ilium HP:0002867
- Abnormality of the thoracic cavity HP:0045027
- Cupped ribs HP:0000887
- Deformed rib cage HP:0000886
- Growth delay HP:0001510
- Iliac crest serration HP:0008786
- Narrow chest HP:0000774
- Proximal femoral metaphyseal abnormality HP:0006431
- Reduced visual acuity HP:0007663
- Retinal dystrophy HP:0000556
- Rod-cone dystrophy HP:0000510
- Short ribs HP:0000773
- Short stature HP:0004322
- Thoracic hypoplasia HP:0005257
- Upper limb undergrowth HP:0009824
Very frequent
- Abnormal metacarpal morphology HP:0005916
- Aplasia/Hypoplasia of the ribs HP:0006712
- Aplasia/Hypoplasia of the vertebrae HP:0008515
- Coxa vara HP:0002812
- Flared, irregular rib ends HP:0006603
- Flaring of lower rib cage HP:0006589
- Flattened femoral head HP:0008812
- Increased upper to lower segment ratio HP:0012774
- Neonatal respiratory distress HP:0002643
- Platyspondyly HP:0000926
- Proximal femoral metaphyseal irregularity HP:0003411
- Respiratory tract infection HP:0011947
Frequent
- Acromesomelia HP:0003086
- Amblyopia HP:0000646
- Cataract HP:0000518
- Delayed ossification of carpal bones HP:0001216
- Disproportionate short-trunk short stature HP:0003521
- Dyschromatopsia HP:0007641
- Flat acetabular roof HP:0003180
- Hypoplastic iliac wing HP:0002866
- Mild postnatal growth retardation HP:0001530
- Narrow greater sciatic notch HP:0003375
- Nystagmus HP:0000639
- Optic atrophy HP:0000648
- Osteopenia HP:0000938
- Peripheral retinal degeneration HP:0007769
- Photophobia HP:0000613
- Posterior wedging of vertebral bodies HP:0008444
- Ptosis HP:0000508
- Scoliosis HP:0002650
- Short femoral neck HP:0100864
- Thoracic scoliosis HP:0002943
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.