MCID: LWR016
MIFTS: 22

Lowry-Maclean Syndrome

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lowry-Maclean Syndrome

MalaCards integrated aliases for Lowry-Maclean Syndrome:

Name: Lowry-Maclean Syndrome 56 74 58
Lowry Maclean Syndrome 52 71
Mental Retardation, Cleft Palate, Eventration of Diaphragm, Congenital Heart Defect, Glaucoma, Craniosynostosis and Growth Failure 52

Characteristics:

Orphanet epidemiological data:

58
lowry-maclean syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
lowry-maclean syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Lowry-Maclean Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2409 Definition Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly , craniosynostosis , glaucoma , growth failure and visceral malformations. Epidemiology Only three cases have been reported in the literature in three unrelated families. Clinical description Dysmorphic features include trigonocephaly, exotropia, cleft palate , beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects , diaphragmatic hernia, genital or cerebral abnormalities. Genetic counseling The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis Prognosis is poor. Visit the Orphanet disease page for more resources.

MalaCards based summary : Lowry-Maclean Syndrome, is also known as lowry maclean syndrome. Affiliated tissues include heart, bone and eye, and related phenotypes are microcephaly and cleft palate

Wikipedia : 74 Lowry-MacLean syndrome is a congenital condition that may be characterized by an ear... more...

More information from OMIM: 600252

Related Diseases for Lowry-Maclean Syndrome

Symptoms & Phenotypes for Lowry-Maclean Syndrome

Human phenotypes related to Lowry-Maclean Syndrome:

58 31 (showing 61, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
2 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
3 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
4 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
5 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
6 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
7 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
8 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
9 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
10 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
11 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
12 delayed eruption of primary teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000680
13 developmental glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0001087
14 abnormality of the abdominal organs 58 31 frequent (33%) Frequent (79-30%) HP:0002012
15 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
16 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
17 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
18 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
19 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
20 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
21 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
22 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
23 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
24 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
25 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
26 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
27 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
28 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
29 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
30 megalocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000485
31 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
32 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
33 atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0006695
34 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
35 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
36 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
37 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
38 dermoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0025247
39 bilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008689
40 generalized hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004554
41 craniofacial dysostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004439
42 small anterior fontanelle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000237
43 midgut malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005211
44 short nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0003194
45 widely patent coronal suture 58 31 occasional (7.5%) Occasional (29-5%) HP:0005442
46 talon cusp 58 31 occasional (7.5%) Occasional (29-5%) HP:0011087
47 abnormality of the supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0100538
48 exotropia 31 occasional (7.5%) HP:0000577
49 seizure 31 very rare (1%) HP:0001250
50 intellectual disability 31 HP:0001249
51 global developmental delay 31 HP:0001263
52 seizures 58 Very rare (<4-1%)
53 growth delay 58 Frequent (79-30%)
54 glaucoma 31 HP:0000501
55 delayed eruption of teeth 31 HP:0000684
56 abnormality of the genital system 58 Occasional (29-5%)
57 preauricular pit 31 HP:0004467
58 abnormality of cardiovascular system morphology 58 Frequent (79-30%)
59 abnormal heart morphology 31 HP:0001627
60 diaphragmatic eventration 31 HP:0009110
61 congenital exotropia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Head:
microcephaly
craniosynostosis

Growth:
intrauterine growth retardation

Neuro:
developmental delay
mental retardation

Cardiac:
congenital heart defect

Lab:
normal chromosomes

Ears:
preauricular tag/pit

Mouth:
cleft palate

Eyes:
glaucoma

Nose:
beaked nose

Teeth:
delayed dentition

Thorax:
eventration of diaphragm

Clinical features from OMIM:

600252

Drugs & Therapeutics for Lowry-Maclean Syndrome

Search Clinical Trials , NIH Clinical Center for Lowry-Maclean Syndrome

Genetic Tests for Lowry-Maclean Syndrome

Anatomical Context for Lowry-Maclean Syndrome

MalaCards organs/tissues related to Lowry-Maclean Syndrome:

40
Heart, Bone, Eye

Publications for Lowry-Maclean Syndrome

Articles related to Lowry-Maclean Syndrome:

(showing 3, show less)
# Title Authors PMID Year
1
Lowry-Maclean syndrome with osteopenic bones and possible autosomal dominant inheritance in a Bedouin family. 61 56
9415481 1997
2
Lowry-Maclean syndrome does exist. 61 56
7856667 1994
3
Syndromes with cleft lip and cleft palate. 56
281275 1978

Variations for Lowry-Maclean Syndrome

Expression for Lowry-Maclean Syndrome

Search GEO for disease gene expression data for Lowry-Maclean Syndrome.

Pathways for Lowry-Maclean Syndrome

GO Terms for Lowry-Maclean Syndrome

Sources for Lowry-Maclean Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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