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Lowry-Wood syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	LOWRY-WOOD SYNDROME LWS Epiphyseal dysplasia - microcephaly - nystagmus
Number of Symptoms	28
OrphanetNr:	1824
OMIM Id:	226960
ICD-10:	Q87.5
UMLs:	C0796021
MeSH:	C537038
MedDRA:	10062600
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	< 10 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Multiple epiphyseal dysplasia and pseudoachondroplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
2	(HPO:0000572)	Visual loss	Occasional [Orphanet]	272 / 7739
3	(HPO:0000510)	Rod-cone dystrophy	Frequent [Orphanet]	266 / 7739
4	(HPO:0000483)	Astigmatism	Occasional [Orphanet]	67 / 7739
5	(HPO:0000639)	Nystagmus	Frequent [Orphanet]	555 / 7739
6	(HPO:0001256)	Intellectual disability, mild		141 / 7739
7	(HPO:0003182)	Shallow acetabular fossae		10 / 7739
8	(HPO:0002818)	Abnormality of the radius	Occasional [Orphanet]	96 / 7739
9	(HPO:0001385)	Hip dysplasia	Frequent [Orphanet]	242 / 7739
10	(HPO:0002999)	Patellar dislocation	Occasional [Orphanet]	46 / 7739
11	(HPO:0004279)	Short palm	Occasional [Orphanet]	323 / 7739
12	(HPO:0002750)	Delayed skeletal maturation	Occasional [Orphanet]	250 / 7739
13	(HPO:0003177)	Squared iliac bones		7 / 7739
14	(HPO:0010585)	Small epiphyses		16 / 7739
15	(HPO:0005059)	Arthralgia/arthritis	Frequent [Orphanet]	141 / 7739
16	(HPO:0002656)	Epiphyseal dysplasia		25 / 7739
17	(HPO:0005930)	Abnormality of epiphysis morphology	Very frequent [Orphanet]	119 / 7739
18	(HPO:0001387)	Joint stiffness	Occasional [Orphanet]	322 / 7739
19	(HPO:0003042)	Elbow dislocation	Occasional [Orphanet]	89 / 7739
20	(HPO:0000926)	Platyspondyly	Occasional [Orphanet]	150 / 7739
21	(HPO:0010582)	Irregular epiphyses		19 / 7739
22	(HPO:0001518)	Small for gestational age		107 / 7739
23	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
24	(HPO:0001820)	Leukonychia	Occasional [Orphanet]	18 / 7739
25	(OMIM)	Flattened acetabulae		1 / 7739
26	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
27	(HPO:0012758)	Neurodevelopmental delay	Frequent [Orphanet]	949 / 7739
28	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Occasional [Orphanet]	180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Lowry and Wood (1975) described this combination in 2 brothers. The radiologic finding consisted of small and irregular epiphyses, square iliac bones, and flattened acetabulae. The brothers were both 'small-for-date' babies. The older brother was mildly retarded. Lowry ... Lowry and Wood (1975) described this combination in 2 brothers. The radiologic finding consisted of small and irregular epiphyses, square iliac bones, and flattened acetabulae. The brothers were both 'small-for-date' babies. The older brother was mildly retarded. Lowry et al. (1989) presented follow-up information on these brothers. They were reexamined at the ages of 17.75 and 15.75 years. Both had restricted elbow extension and the younger brother had bilateral dislocated radial heads. The older brother had developed typical changes of retinitis pigmentosa. The younger brother also had retinitis pigmentosa, although he was not studied as fully as was the older brother (Lowry, 1993). Nevin et al. (1986) described affected brother and sister with short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. They did not have nystagmus. Nevin et al. (1986) concluded that autosomal recessive inheritance was likely. Hankenson et al. (1989) described a brother and sister with epiphyseal dysplasia and microcephaly. They did not have mental retardation or nystagmus. Brunetti-Pierri et al. (2003) described a patient with microcephaly and multiple epiphyseal dysplasia, but no additional features, suggesting a mild form of Lowry-Wood syndrome. No mutations were found on molecular analysis of the cartilage oligomeric matrix protein gene (600310). Magnani et al. (2009) described a 17-year-old boy who displayed clinical features consistent with Lowry-Wood syndrome, including microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation. Bilateral restricted elbow extension, knock knees, and hip dislocation were also present. Radiographs showed evidence of radial dislocation due to absence of radial heads, lateral dislocation of both patellae, multiple epiphyseal dysplasia that was more severe at the proximal femoral epiphyses, and dislocation of both hips with severe dysplasia. Conventional karyotyping was normal; molecular karyotyping by array-based competitive genomic hybridization showed copy number variants that were probably benign. Magnani et al. (2009) suggested that severe hypoplasia or agenesis of the radial heads and multiple joint dislocations (elbows, hips, and knees, including the patellae) might be additional signs of Lowry-Wood syndrome.

Symptoms & Signs

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	Disease
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