Hallermann-Streiff syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
FRANCOIS DYSCEPHALIC SYNDROME HSS François dyscephalic syndrome |
Number of Symptoms | 117 |
OrphanetNr: | 2108 |
OMIM Id: |
234100
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ICD-10: |
Q87.0 |
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: | < 100 cases [Orphanet] |
Inheritance: |
Not applicable [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Congenital absence of the eyebrow/eyelashes
-Rare eye disease -Rare genetic disease Craniofacial anomaly with cataract -Rare eye disease -Rare genetic disease Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Ectodermal malformation syndrome associated with ocular features -Rare eye disease -Rare genetic disease Genetic malformation syndrome with short stature -Rare genetic disease Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare genetic disease Malformation syndrome with short stature -Rare developmental defect during embryogenesis Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare developmental defect during embryogenesis Premature aging -Rare genetic disease -Rare skin disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Slender bone dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
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(HPO:0000233) | Thin vermilion border | 124 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0002645) | Wormian bones | 65 / 7739 | ||||
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(HPO:0000189) | Narrow palate | 45 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0009933) | Narrow naris | Frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
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(HPO:0001739) | Abnormality of the nasopharynx | 16 / 7739 | ||||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000163) | Abnormality of the oral cavity | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000272) | Malar flattening | Frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0001592) | Selective tooth agenesis | 16 / 7739 | ||||
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(HPO:0002691) | Platybasia | 10 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000695) | Natal tooth | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0011069) | Increased number of teeth | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000929) | Abnormality of the skull | Occasional [Orphanet] | 53 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0000162) | Glossoptosis | Frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000460) | Narrow nose | 14 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000308) | Microretrognathia | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000453) | Choanal atresia | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0000242) | Parietal bossing | 11 / 7739 | ||||
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(HPO:0000239) | Large fontanelles | Frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0010539) | Thin calvarium | 2 / 7739 | ||||
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(HPO:0100533) | Inflammatory abnormality of the eye | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000501) | Glaucoma | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0000611) | Choroid coloboma | 12 / 7739 | ||||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000612) | Iris coloboma | 116 / 7739 | ||||
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(HPO:0000567) | Chorioretinal coloboma | 26 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000588) | Optic nerve coloboma | 27 / 7739 | ||||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000592) | Blue sclerae | 85 / 7739 | ||||
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(HPO:0000545) | Myopia | Occasional [Orphanet] | 286 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0002870) | Obstructive sleep apnea | 16 / 7739 | ||||
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(HPO:0000752) | Hyperactivity | 140 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 15% [HPO:probinson] | 1089 / 7739 | |||
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(HPO:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
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(HPO:0000821) | Hypothyroidism | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0200055) | Small hand | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | 231 / 7739 | ||||
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(HPO:0001155) | Abnormality of the hand | 54 / 7739 | ||||
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(HPO:0001773) | Short foot | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0006611) | Decreased number of sternal ossification centers | 1 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0002414) | Spina bifida | 47 / 7739 | ||||
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(HPO:0003100) | Slender long bone | 45 / 7739 | ||||
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(HPO:0003307) | Hyperlordosis | 122 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0006660) | Aplastic clavicles | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000883) | Thin ribs | 31 / 7739 | ||||
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(HPO:0002659) | Increased susceptibility to fractures | Frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0003363) | Abdominal situs inversus | Occasional [Orphanet] | 19 / 7739 | |||
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(HPO:0003508) | Proportionate short stature | 12 / 7739 | ||||
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(HPO:0001518) | Small for gestational age | 107 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0004334) | Dermal atrophy | 34 / 7739 | ||||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0004528) | Generalized hypotrichosis | 18 / 7739 | ||||
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(HPO:0001009) | Telangiectasia | 46 / 7739 | ||||
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(HPO:0010719) | Abnormality of hair texture | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0002213) | Fine hair | 77 / 7739 | ||||
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(HPO:0004782) | Hypotrichosis of the scalp | 7 / 7739 | ||||
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(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000963) | Thin skin | 96 / 7739 | ||||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0002092) | Pulmonary hypertension | 109 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0002779) | Tracheomalacia | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0006532) | Recurrent pneumonia | 48 / 7739 | ||||
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(OMIM) | Persistence of neonatal teeth | 1 / 7739 | ||||
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(OMIM) | Thin, small pointed nose | 1 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(OMIM) | Thin, light hair | 1 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(OMIM) | Thin, gracile metacarpals | 1 / 7739 | ||||
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(OMIM) | Winging of scapula | 1 / 7739 | ||||
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(OMIM) | Optic disc coloboma | 2 / 7739 | ||||
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(OMIM) | Absence of mandibular condyles | 1 / 7739 | ||||
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(OMIM) | Average female height 152 cm | 1 / 7739 | ||||
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(OMIM) | Average male height 155-157 cm | 1 / 7739 | ||||
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(OMIM) | Delayed ossification of sutures | 1 / 7739 | ||||
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(OMIM) | Shallow sella turcica | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in ... |
Clinical Description OMIM |
Hallermann (1948) and Streiff (1950) reported patients with dyscephaly, a 'bird-like' face, congenital cataracts, and microphthalmia. Francois (1958) identified similar reported cases with the additional features of hypotrichosis, skin atrophy, dental anomalies, and short stature. Dental ... |