Clinical Signs and Symptoms
ORPHA:2588 Myhre syndrome
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 pubic bone HP:0003172
- Abnormality of the ribs HP:0000772
- Brachydactyly HP:0001156
- Craniofacial hyperostosis HP:0004493
- Global developmental delay HP:0001263
- Hearing impairment HP:0000365
- Hypoplasia of the maxilla HP:0000327
- Intellectual disability HP:0001249
- Intrauterine growth retardation HP:0001511
- Joint stiffness HP:0001387
- Large iliac wings HP:0008818
- Mandibular prognathia HP:0000303
- Midface retrusion HP:0011800
- Narrow mouth HP:0000160
- Platyspondyly HP:0000926
- Severe short stature HP:0003510
- Short palm HP:0004279
- Skeletal muscle hypertrophy HP:0003712
- Specific learning disability HP:0001328
- Thin vermilion border HP:0000233
Very frequent
- Abnormality of epiphysis morphology HP:0005930
- Abnormality of the cardiac septa HP:0001671
- Abnormality of the lip HP:0000159
- Abnormality of the metaphysis HP:0000944
- Blepharophimosis HP:0000581
- Cryptorchidism HP:0000028
- EMG abnormality HP:0003457
- High-grade hypermetropia HP:0008499
- Hypertension HP:0000822
- Ptosis HP:0000508
- Short palpebral fissure HP:0012745
- Thickened skin HP:0001072
Frequent
- Abnormality of the penis HP:0000036
- Behavioral abnormality HP:0000708
- Bifid uvula HP:0000193
- Cataract HP:0000518
- Cleft palate HP:0000175
- Epispadias HP:0000039
- External genital hypoplasia HP:0003241
- Femoral hernia HP:0100541
- Gingival cleft HP:0030690
- Hypogonadism HP:0000135
- Hypospadias HP:0000047
- Inguinal hernia HP:0000023
- Precocious puberty HP:0000826
- Submucous cleft hard palate HP:0000176
- Unilateral cleft lip HP:0100333
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.