Hallermann-Streiff Syndrome (HSS) malady

NIH Rare Diseases:⁴² Hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012

MalaCards based summary: Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to cataract and retinal detachment, and has symptoms including micrognathia, convex nasal ridge and cataract. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Myometrial Relaxation and Contraction Pathways. The compounds lycopene and chelerythrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:⁹ A syndrome that affects growth, cranial development, hair growth and dental development.

OMIM:⁴⁶ Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

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Disease Ontology9 DOID:4534 MeSH34 D006210, C537273 OMIM46 234100 SNOMED-CT56 205417000, 7903009

NCIt39 C84746 ICD10 via Orphanet27 Q87.0 UMLS via Orphanet62 C0018522 UMLS61 C0018522

Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Symptoms:

 ⁴⁸ (show all 52)

brachycephaly/flat occiput frontal bossing/prominent forehead hypoplastic mandibula/partial absence of the mandibula anophthalmos/anophthalmia/microphthalmos/microphthalmia cataract/lens opacification beaked nose anomalies of teeth and dentition clavicle absent/abnormal anomalies of the ribs skin hypoplasia/aplasia/atrophy hypotrichosis/atrichia/atrichiasis/scalp hairlessness decreased body hair/axillar/pubic hairlessness alopecia osteoporosis/osteopenia/demineralisation/osteomalacia/rickets short stature/dwarfism/nanism large fontanelle/delayed fontanelle closure flat cheek bones/malar hypoplasia micrognathia/retrognathia/micrognathism/retrognathism visual loss/blindness/amblyopia anomalies of eyelids, eyelashes and lacrimal system telecanthus/canthal dystopy small/triangular nares/nostrils microstomia/little mouth anomalies of tongue, gingiva and oral mucosa glossoptosis high vaulted/narrow palate

supernumerary teeth/polyodontia premature eruption of teeth/natal teeth abnormal hair texture/hair dysplasia mutiple fractures/bone fragility skull/cranial anomalies microcephaly glaucoma chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis myopia strabismus/squint nystagmus choanal atresia small hand/acromicria clinodactyly of fifth finger small foot situs inversus visceralis/colon/intestine trasposition/heterotaxia tracheomalacia/tracheobronchomalacia respiratory distress/dyspnea/respiratory failure/lung volume reduction congenital cardiac anomaly/malformation/cardiopathy heart/cardiac failure undescended/ectopic testes/cryptorchidia/unfixed testes hypothyroidy cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia intellectual deficit/mental/psychomotor retardation/learning disability autosomal recessive inheritance early death/lethality

HPO human phenotypes related to Hallermann-Streiff Syndrome:

(show all 105)

id	Description	Frequency	HPO Source Accession
1	micrognathia	hallmark (90%)	HP:0000347
2	convex nasal ridge	hallmark (90%)	HP:0000444
3	cataract	hallmark (90%)	HP:0000518
4	abnormality of the ribs	hallmark (90%)	HP:0000772
5	abnormality of the clavicles	hallmark (90%)	HP:0000889
6	alopecia	hallmark (90%)	HP:0001596
7	frontal bossing	hallmark (90%)	HP:0002007
8	short stature	hallmark (90%)	HP:0004322
9	reduced bone mineral density	hallmark (90%)	HP:0004349
10	aplasia/hypoplasia affecting the eye	hallmark (90%)	HP:0008056
11	aplasia/hypoplasia of the skin	hallmark (90%)	HP:0008065
12	narrow mouth	typical (50%)	HP:0000160
13	glossoptosis	typical (50%)	HP:0000162
14	abnormality of the palate	typical (50%)	HP:0000174
15	abnormality of the fontanelles or cranial sutures	typical (50%)	HP:0000235
16	micrognathia	typical (50%)	HP:0000347
17	visual impairment	typical (50%)	HP:0000505
18	telecanthus	typical (50%)	HP:0000506
19	recurrent fractures	typical (50%)	HP:0002757
20	abnormality of the nares	typical (50%)	HP:0005288
21	advanced eruption of teeth	typical (50%)	HP:0006288
22	cheekbone underdevelopment	typical (50%)	HP:0010669
23	abnormality of hair texture	typical (50%)	HP:0010719
24	increased number of teeth	typical (50%)	HP:0011069
25	intellectual disability	15%	HP:0001249
26	cryptorchidism	occasional (7.5%)	HP:0000028
27	microcephaly	occasional (7.5%)	HP:0000252
28	choanal atresia	occasional (7.5%)	HP:0000453
29	strabismus	occasional (7.5%)	HP:0000486
30	glaucoma	occasional (7.5%)	HP:0000501
31	myopia	occasional (7.5%)	HP:0000545
32	nystagmus	occasional (7.5%)	HP:0000639
33	hypothyroidism	occasional (7.5%)	HP:0000821
34	congestive heart failure	occasional (7.5%)	HP:0001635
35	short foot	occasional (7.5%)	HP:0001773
36	respiratory insufficiency	occasional (7.5%)	HP:0002093
37	tracheomalacia	occasional (7.5%)	HP:0002779
38	abdominal situs inversus	occasional (7.5%)	HP:0003363
39	clinodactyly of the 5th finger	occasional (7.5%)	HP:0004209
40	short palm	occasional (7.5%)	HP:0004279
41	aplasia/hypoplasia of the cerebellum	occasional (7.5%)	HP:0007360
42	inflammatory abnormality of the eye	occasional (7.5%)	HP:0100533
43	cognitive impairment	occasional (7.5%)	HP:0100543
44	cryptorchidism		HP:0000028
45	narrow mouth		HP:0000160
46	narrow palate		HP:0000189
47	high palate		HP:0000218
48	everted lower lip vermilion		HP:0000232
49	thin vermilion border		HP:0000233
50	parietal bossing		HP:0000242
51	brachycephaly		HP:0000248
52	microcephaly		HP:0000252
53	dolichocephaly		HP:0000268
54	malar flattening		HP:0000272
55	micrognathia		HP:0000347
56	low-set ears		HP:0000369
57	underdeveloped nasal alae		HP:0000430
58	narrow nose		HP:0000460
59	strabismus		HP:0000486
60	downslanted palpebral fissures		HP:0000494
61	cataract		HP:0000518
62	sparse eyebrow		HP:0000535
63	microphthalmos		HP:0000568
64	optic nerve coloboma		HP:0000588
65	blue sclerae		HP:0000592
66	choroid coloboma		HP:0000611
67	iris coloboma		HP:0000612
68	nystagmus		HP:0000639
69	sparse eyelashes		HP:0000653
70	dental malocclusion		HP:0000689
71	natal tooth		HP:0000695
72	hyperactivity		HP:0000752
73	pectus excavatum		HP:0000767
74	thin ribs		HP:0000883
75	dry skin		HP:0000958
76	telangiectasia		HP:0001009
77	abnormality of the hand		HP:0001155
78	choreoathetosis		HP:0001266
79	joint hypermobility		HP:0001382
80	small for gestational age		HP:0001518
81	selective tooth agenesis		HP:0001592
82	abnormality of the nasopharynx		HP:0001739
83	frontal bossing		HP:0002007
84	generalized tonic-clonic seizures		HP:0002069
85	pulmonary hypertension		HP:0002092
86	recurrent respiratory infections		HP:0002205
87	fine hair		HP:0002213
88	spina bifida		HP:0002414
89	wormian bones		HP:0002645
90	scoliosis		HP:0002650
91	platybasia		HP:0002691
92	tracheomalacia		HP:0002779
93	obstructive sleep apnea		HP:0002870
94	metaphyseal widening		HP:0003016
95	slender long bone		HP:0003100
96	hyperlordosis		HP:0003307
97	proportionate short stature		HP:0003508
98	sporadic		HP:0003745
99	dermal atrophy		HP:0004334
100	hypotrichosis of the scalp		HP:0004782
101	recurrent pneumonia		HP:0006532
102	decreased number of sternal ossification centers		HP:0006611
103	sparse hair		HP:0008070
104	thin calvarium		HP:0010539
105	increased number of teeth		HP:0011069

Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.