Progressive hemifacial atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: HFA
parry-romberg syndrome
Number of Symptoms 35
OrphanetNr: 1214
OMIM Id: 141300
ICD-10: G51.8
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
2
(HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
3
(HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
4
(HPO:0000581) Blepharophimosis 197 / 7739
5
(HPO:0003778) Short mandibular rami 7 / 7739
6
(HPO:0012473) Tongue atrophy 8 / 7739
7
(HPO:0000689) Dental malocclusion 114 / 7739
8
(HPO:0000684) Delayed eruption of teeth 117 / 7739
9
(HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
10
(HPO:0002277) Horner syndrome 7 / 7739
11
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
12
(HPO:0008551) Microtia 98 / 7739
13
(HPO:0001251) Ataxia 413 / 7739
14
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
15
(HPO:0002076) Migraine 41 / 7739
16
(HPO:0001327) Photomyoclonic seizures 125 / 7739
17
(HPO:0100661) Trigeminal neuralgia 3 / 7739
18
(HPO:0002808) Kyphosis 289 / 7739
19
(HPO:0100555) Asymmetric growth Frequent [Orphanet] 25 / 7739
20
(HPO:0002290) Poliosis 3 / 7739
21
(HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
22
(HPO:0002229) Alopecia areata 5 / 7739
23
(HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
24
(HPO:0003011) Abnormality of the musculature Frequent [Orphanet] 47 / 7739
25
(HPO:0003674) Onset 32 / 7739
26
(OMIM) Misshapen, small ear 1 / 7739
27
(MedDRA:10023683) Lagophthalmos 2 / 7739
28
(OMIM) Basilar kyphosis 1 / 7739
29
(HPO:0003745) Sporadic 131 / 7739
30
(OMIM) Facial muscle atrophy of involved side 1 / 7739
31
(OMIM) Delayed teeth eruption on ipsilateral side 1 / 7739
32
(OMIM) Loss of periorbital fat 1 / 7739
33
(OMIM) Lip atrophy (involved side) 1 / 7739
34
(OMIM) Circumscribed alopecia 1 / 7739
35
(OMIM) Wasting of one side of face 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...