Johanson-Blizzard syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS
JBS
Number of Symptoms 92
OrphanetNr: 2315
OMIM Id: 243800
ICD-10: Q87.8
UMLs: C0175692
MeSH: C535880
MedDRA:
Snomed: 75979009

Prevalence, inheritance and age of onset:

Prevalence: 23 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with short stature
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001092) Absent lacrimal punctum 6 / 7739
2
 (HPO:0000486) Strabismus 576 / 7739
3
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
4
 (HPO:0001696) Situs inversus totalis 44 / 7739
5
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
6
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
7
 (HPO:0001508) Failure to thrive 454 / 7739
8
 (HPO:0001518) Small for gestational age 107 / 7739
9
 (HPO:0002901) Hypocalcemia 56 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0001651) Dextrocardia Occasional [Orphanet] 38 / 7739
12
 (HPO:0001631) Atria septal defect 274 / 7739
13
 (HPO:0001629) Ventricular septal defect 316 / 7739
14
 (HPO:0001644) Dilated cardiomyopathy rare [HPO:skoehler] 141 / 7739
15
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
16
 (HPO:0003075) Hypoproteinemia Frequent [Orphanet] 27 / 7739
17
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
18
 (HPO:0000969) Edema Occasional [Orphanet] 117 / 7739
19
 (HPO:0012050) Anasarca 4 / 7739
20
 (HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 9 / 7739
21
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0010547) Muscle flaccidity 466 / 7739
24
 (HPO:0001324) Muscle weakness 859 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
27
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
28
 (HPO:0000954) Single transverse palmar crease 162 / 7739
29
 (HPO:0005498) Midline skin dimples over anterior/posterior fontanelles 1 / 7739
30
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
31
 (HPO:0001362) Calvarial skull defect 22 / 7739
32
 (HPO:0002557) Hypoplastic nipples 33 / 7739
33
 (HPO:0001388) Joint laxity 117 / 7739
34
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
35
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
36
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
37
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
38
 (HPO:0002286) Fair hair 20 / 7739
39
 (HPO:0002209) Sparse scalp hair 59 / 7739
40
 (HPO:0001597) Abnormality of the nail 115 / 7739
41
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
42
 (HPO:0001545) Anteriorly placed anus 55 / 7739
43
 (HPO:0000143) Rectovaginal fistula 18 / 7739
44
 (HPO:0002253) Colonic diverticula 12 / 7739
45
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
46
 (HPO:0002611) Cholestatic liver disease 19 / 7739
47
 (HPO:0001396) Cholestasis rare [HPO:skoehler] 136 / 7739
48
 (HPO:0001399) Hepatic failure rare [HPO:skoehler] 80 / 7739
49
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
50
 (HPO:0012092) Abnormality of exocrine pancreas physiology Very frequent [Orphanet] 9 / 7739
51
 (HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
52
 (HPO:0000057) Clitoromegaly 30 / 7739
53
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
54
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
55
 (HPO:0008716) Urethrovaginal fistula 1 / 7739
56
 (HPO:0000028) Cryptorchidism 347 / 7739
57
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
58
 (HPO:0001153) Septate vagina 6 / 7739
59
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
60
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
61
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
62
 (HPO:0006334) Hypoplasia of the primary teeth 2 / 7739
63
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
64
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
65
 (HPO:0000444) Convex nasal ridge 87 / 7739
66
 (HPO:0009933) Narrow naris Occasional [Orphanet] 16 / 7739
67
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
68
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
69
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
70
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
71
 (HPO:0007385) Aplasia cutis congenita of scalp 10 / 7739
72
 (HPO:0000821) Hypothyroidism 141 / 7739
73
 (HPO:0008191) Thyroid agenesis 11 / 7739
74
 (HPO:0000126) Hydronephrosis 119 / 7739
75
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
76
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
77
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
78
 (HPO:0003819) Death in childhood 42 / 7739
79
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
80
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
81
 (MedDRA:10016642) Fibrosis 9 / 7739
82
 (OMIM) 'Unruly' scalp hair 1 / 7739
83
 (OMIM) Absent areolae 1 / 7739
84
 (OMIM) Blonde, sparse scalp hair 1 / 7739
85
 (OMIM) Calicectasis 1 / 7739
86
 (OMIM) Cutaneolacrimal fistulae 1 / 7739
87
 (OMIM) Cystic dilatation of cochlea and vestibulum 1 / 7739
88
 (OMIM) Double vagina 1 / 7739
89
 (OMIM) Extension of lateral hairline onto forehead 1 / 7739
90
 (OMIM) Frontal upsweep 1 / 7739
91
 (OMIM) Giant cell hepatocytes (1 patient) 2 / 7739
92
 (OMIM) Low total serum protein 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural ...
Clinical Description OMIM Johanson and Blizzard (1971) and Park et al. (1972) described this syndrome in 3 unrelated girls; features included aplasia or hypoplasia of the nasal alae, congenital deafness, hypothyroidism, postnatal growth retardation, malabsorption, mental retardation, midline ectodermal scalp defects, ...
Molecular genetics OMIM Zenker et al. (2005) prioritized genes within the JBS candidate region on chromosome 15q for mutational screening on the basis of putative function and expression data but identified no obvious candidate. By high-throughput sequencing of DNA from individuals ...