Lowry-MacLean syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 49
OrphanetNr: 2409
OMIM Id: 600252
ICD-10: Q87.8
UMLs: C0796020
MeSH: C537037
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
(HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
3
(HPO:0000175) Cleft palate 349 / 7739
4
(HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
5
(HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
6
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
(HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
8
(HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
9
(HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
10
(HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
11
(HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
12
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
13
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
14
(HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
15
(HPO:0000684) Delayed eruption of teeth 117 / 7739
16
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
17
(HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
18
(HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
19
(HPO:0000485) Megalocornea Frequent [Orphanet] 26 / 7739
20
(HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
21
(HPO:0004467) Preauricular pit 39 / 7739
22
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
23
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
(HPO:0001263) Global developmental delay 853 / 7739
25
(HPO:0001249) Intellectual disability 1089 / 7739
26
(HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
27
(HPO:0001195) Single umbilical artery Frequent [Orphanet] 23 / 7739
28
(HPO:0002021) Pyloric stenosis Frequent [Orphanet] 51 / 7739
29
(HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
30
(HPO:0002566) Intestinal malrotation Frequent [Orphanet] 89 / 7739
31
(HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
32
(HPO:0009110) Diaphragmatic eventration 8 / 7739
33
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
35
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
36
(HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
37
(HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
38
(HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
39
(HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
40
(HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
41
(HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
42
(OMIM) Preauricular tag/pit 1 / 7739
43
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
44
(OMIM) Delayed dentition 5 / 7739
45
(OMIM) Eventration of diaphragm 4 / 7739
46
(OMIM) Normal chromosomes 5 / 7739
47
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
48
(HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
49
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: