Clinical Signs and Symptoms
ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type
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 metaphysis HP:0000944
- Abnormality of the vertebral column HP:0000925
- Metaphyseal dysplasia HP:0100255
Very frequent
- Abnormality of the epiphysis of the femoral head HP:0010574
- Abnormality of the ilium HP:0002867
- Abnormality of the knee HP:0002815
- Coxa vara HP:0002812
- Disproportionate short-trunk short stature HP:0003521
- Genu valgum HP:0002857
- Hip dysplasia HP:0001385
- Narrow greater sciatic notch HP:0003375
- Platyspondyly HP:0000926
- Scoliosis HP:0002650
- Severe short stature HP:0003510
- Short iliac bones HP:0100866
Frequent
- Abnormality of the wrist HP:0003019
- Cleft soft palate HP:0000185
- Gastroesophageal reflux HP:0002020
- Gastrostomy tube feeding in infancy HP:0011471
- Irregular acetabular roof HP:0008833
- Irregular iliac crest HP:0003796
- Kyphoscoliosis HP:0002751
- Micrognathia HP:0000347
- Myopia HP:0000545
- Nasogastric tube feeding in infancy HP:0011470
- Polyhydramnios HP:0001561
- Poor suck HP:0002033
- Short femoral neck HP:0100864
- Short long bone HP:0003026
- Stenosis of the external auditory canal HP:0000402
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.