Clinical Signs and Symptoms
ORPHA:1051 Ramos-Arroyo 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 midface HP:0000309
- Decreased corneal sensation HP:0012155
Very frequent
- Abnormal autonomic nervous system physiology HP:0012332
- Absent retinal pigment epithelium HP:0007980
- Aganglionic megacolon HP:0002251
- Bilateral sensorineural hearing impairment HP:0008619
- Broad face HP:0000283
- Choriocapillaris atrophy HP:0030491
- Concave nasal ridge HP:0011120
- Decreased body weight HP:0004325
- Delayed gross motor development HP:0002194
- Depressed nasal bridge HP:0005280
- Frontal bossing HP:0002007
- Hypertelorism HP:0000316
- Intellectual disability HP:0001249
- Keratitis HP:0000491
- Nasolacrimal duct obstruction HP:0000579
- Patent ductus arteriosus HP:0001643
- Prominent forehead HP:0011220
- Reduced visual acuity HP:0007663
- Severe failure to thrive HP:0001525
- Severe short stature HP:0003510
- Upslanted palpebral fissure HP:0000582
Frequent
- Anteverted nares HP:0000463
- Atrial septal defect HP:0001631
- Carious teeth HP:0000670
- Choanal stenosis HP:0000452
- Chorioretinal atrophy HP:0000533
- Chronic constipation HP:0012450
- Congenital microcephaly HP:0011451
- Corneal ulceration HP:0012804
- Dacryocystitis HP:0000620
- Deviated nasal septum HP:0004411
- Feeding difficulties in infancy HP:0008872
- Food intolerance HP:0012537
- High anterior hairline HP:0009890
- Long philtrum HP:0000343
- Narrow mouth HP:0000160
- Narrow palpebral fissure HP:0045025
- Respiratory distress HP:0002098
- Self-mutilation HP:0000742
- Shoulder dimple HP:0010782
- Sleep-wake cycle disturbance HP:0006979
- Smooth tongue HP:0010298
- Sparse scalp hair HP:0002209
- Xerostomia HP:0000217
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.