MCID: LWR016
MIFTS: 21

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 57 75 59
Lowry Maclean Syndrome 53 72
Mental Retardation, Cleft Palate, Eventration of Diaphragm, Congenital Heart Defect, Glaucoma, Craniosynostosis and Growth Failure 53

Characteristics:

Orphanet epidemiological data:

59
lowry-maclean syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
? autosomal dominant


HPO:

32
lowry-maclean syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600252
MESH via Orphanet 45 C537037
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796020
Orphanet 59 ORPHA2409
MedGen 42 C0796020
UMLS 72 C0796020

Summaries for Lowry-Maclean Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2409DefinitionLowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.EpidemiologyOnly three cases have been reported in the literature in three unrelated families.Clinical descriptionDysmorphic 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 counselingThe demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance.PrognosisPrognosis 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 low-set ears and microcephaly

Wikipedia : 75 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:

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

Symptoms via clinical synopsis from OMIM:

57
Head:
microcephaly
craniosynostosis

Growth:
intrauterine growth retardation

Cardiac:
congenital heart defect

Nose:
beaked nose

Lab:
normal chromosomes

Ears:
preauricular tag/pit

Mouth:
cleft palate

Eyes:
glaucoma

Neuro:
developmental delay
mental retardation

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:

41
Heart, Bone, Eye

Publications for Lowry-Maclean Syndrome

Articles related to Lowry-Maclean Syndrome:

# Title Authors PMID Year
1
Lowry-Maclean syndrome with osteopenic bones and possible autosomal dominant inheritance in a Bedouin family. 38 8
9415481 1997
2
Lowry-Maclean syndrome does exist. 38 8
7856667 1994
3
Syndromes with cleft lip and cleft palate. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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