Progressive hemifacial atrophy
General Information (adopted from Orphanet):
Synonyms, Signs: |
HFA parry-romberg syndrome |
Number of Symptoms | 35 |
OrphanetNr: | 1214 |
OMIM Id: |
141300
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ICD-10: |
G51.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Not applicable [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Brain inflammatory disease
-Rare neurologic disease Inflammatory and autoimmune disease with epilepsy -Rare neurologic disease |
Symptom Information:
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(HPO:0000308) | Microretrognathia | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000490) | Deeply set eye | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | 197 / 7739 | ||||
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(HPO:0003778) | Short mandibular rami | 7 / 7739 | ||||
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(HPO:0012473) | Tongue atrophy | 8 / 7739 | ||||
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(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
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(HPO:0000684) | Delayed eruption of teeth | 117 / 7739 | ||||
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(HPO:0001100) | Heterochromia iridis | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0002277) | Horner syndrome | 7 / 7739 | ||||
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(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002076) | Migraine | 41 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0100661) | Trigeminal neuralgia | 3 / 7739 | ||||
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(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
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(HPO:0100555) | Asymmetric growth | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0002290) | Poliosis | 3 / 7739 | ||||
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(HPO:0007400) | Irregular hyperpigmentation | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0002229) | Alopecia areata | 5 / 7739 | ||||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0003011) | Abnormality of the musculature | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0003674) | Onset | 32 / 7739 | ||||
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(OMIM) | Misshapen, small ear | 1 / 7739 | ||||
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(MedDRA:10023683) | Lagophthalmos | 2 / 7739 | ||||
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(OMIM) | Basilar kyphosis | 1 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | Facial muscle atrophy of involved side | 1 / 7739 | ||||
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(OMIM) | Delayed teeth eruption on ipsilateral side | 1 / 7739 | ||||
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(OMIM) | Loss of periorbital fat | 1 / 7739 | ||||
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(OMIM) | Lip atrophy (involved side) | 1 / 7739 | ||||
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(OMIM) | Circumscribed alopecia | 1 / 7739 | ||||
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(OMIM) | Wasting of one side of face | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
This syndrome, originally described by Parry (1825) and Henoch and Romberg (1846), consists of slowly progressive atrophy of the soft tissues of essentially half the face, accompanied usually by contralateral Jacksonian epilepsy, trigeminal neuralgia, and changes in the ... |