Keutel syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES
Pulmonic stenosis - brachytelephalangism - calcification of cartilages
Number of Symptoms 60
OrphanetNr: 85202
OMIM Id: 245150
ICD-10: Q87.8
UMLs: C1855607
MeSH: C536167
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
2
 (HPO:0005275) Cartilaginous ossification of nose 1 / 7739
3
 (HPO:0011109) Chronic sinusitis 17 / 7739
4
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
5
 (HPO:0002002) Deep philtrum 42 / 7739
6
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
7
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
8
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
9
 (HPO:0002837) Recurrent bronchitis 21 / 7739
10
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
11
 (HPO:0000272) Malar flattening 277 / 7739
12
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
13
 (HPO:0000400) Macrotia 108 / 7739
14
 (HPO:0005103) Calcification of the auricular cartilage 3 / 7739
15
 (HPO:0000403) Recurrent otitis media 61 / 7739
16
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
17
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
18
 (HPO:0001256) Intellectual disability, mild 141 / 7739
19
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
20
 (HPO:0006140) Premature fusion of phalangeal epiphyses 1 / 7739
21
 (HPO:0005849) Diffuse cerebral calcification 9 / 7739
22
 (HPO:0006646) Costal cartilage calcification 3 / 7739
23
 (HPO:0100593) Calcification of cartilage Very frequent [Orphanet] 4 / 7739
24
 (HPO:0009778) Short thumb 50 / 7739
25
 (HPO:0010109) Short hallux 27 / 7739
26
 (HPO:0005671) Bilateral intracranial calcifications 9 / 7739
27
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
28
 (HPO:0002514) Cerebral calcification 89 / 7739
29
 (HPO:0010655) Epiphyseal stippling 32 / 7739
30
 (HPO:0005268) Spontaneous abortion 15 / 7739
31
 (HPO:0001507) Growth abnormality 36 / 7739
32
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
33
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
34
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
35
 (HPO:0001582) Redundant skin Occasional [Orphanet] 51 / 7739
36
 (HPO:0002092) Pulmonary hypertension Frequent [Orphanet] 109 / 7739
37
 (HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 50 / 7739
38
 (HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
39
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
40
 (HPO:0004969) Peripheral pulmonary artery stenosis 9 / 7739
41
 (HPO:0001642) Pulmonic stenosis 89 / 7739
42
 (HPO:0008747) Cartilaginous ossification of larynx 1 / 7739
43
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
44
 (HPO:0001611) Nasal speech 48 / 7739
45
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
46
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
47
 (OMIM) Progressive cartilaginous ossification of pinnae 1 / 7739
48
 (OMIM) Increased risk of spontaneous abortion 1 / 7739
49
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
50
 (OMIM) Interdigital webbing, mild 2 / 7739
51
 (OMIM) Cartilaginous ossification of trachea and bronchi 1 / 7739
52
 (OMIM) Abnormal cartilage ossification (nose, pinnae, larynx, epiglottis, trachea, bronchial rings, costochondral junctions) 1 / 7739
53
 (OMIM) Stature below 25th percentile 1 / 7739
54
 (OMIM) Normal intelligence 81 / 7739
55
 (OMIM) Pale, stiff pinnae 1 / 7739
56
 (OMIM) Midface hypoplasia, mild 3 / 7739
57
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
 (OMIM) Small alae nasi 1 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
60
 (OMIM) Variable shortening of terminal phalanges (brachytelephalangy) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the children of first cousins once removed, Keutel et al. (1972) found a brother and sister with an apparently distinctive syndrome: multiple peripheral pulmonary stenoses, neural hearing loss, short terminal phalanges, and calcification and/or ossification of the ...
Molecular genetics OMIM Munroe et al. (1999) studied the gene for matrix Gla protein as a candidate for Keutel syndrome because of its localization to the same chromosomal region as the disorder and the known function of its protein product. By ...