The sibs described in this report are similar in several respects to the children in the 2 previously reported families with Lowry-Wood syndrome, including epiphy- seal dysplasia, disproportionate short stature, and micro- cephaly. [docslide.com.br]

pigmentation Arthralgia Coxa vara Intellectual disability Nystagmus Occasionally present symptoms in 5-29% of the cases: Abnormality of nail color Aplasia/hypoplasia of the corpus callosum Astigmatism Brachydactyly Delayed skeletal maturation Dislocated [dovemed.com]

pigmentation 0007703 Arthralgia Joint pain 0002829 Coxa vara 0002812 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Nystagmus Involuntary, rapid, rhythmic eye movements [rarediseases.info.nih.gov]

Pigment Abnormalities RAHMAN SYNDROME Raine Syndrome Rajab Syndrome Rambaud Galian Syndrome Ramon Syndrome Ramos Arroyo Clark Syndrome Rapp-Hodgkin syndrome Rasmussen Johnsen Thomsen Syndrome Ray Peterson Scott Syndrome Reardon Hall Slaney syndrome Reardon [rgd.mcw.edu]

[…] lower lip 12/15 - Speech abnormalities 15/15 ** ** Diminished body bulk 15/15 Kyphoscoliosis 13/15 Osteoporosis 11/11 Long finger/toes 12/15 *** # Unsteady gait 10/15 **** **** Renal abnormalities 3/13 Nephrocalcinosis a 0/13 Frequent infections 0/13 Retinal [ojrd.biomedcentral.com]

He also had hypoplasia of the corpus callosum and leukonychia totalis, which were not described in the previous cases. [ncbi.nlm.nih.gov]

Hereditary leukonychia manifests at birth or early infancy, whereas the acquired type appears in childhood. Leukonychia can be a true leukonychia involving the nail plate. [e-ijd.org]

* Short stature * Mental retardation * Square iliac bones * Flattened acetabula Causes - Lowry Wood syndrome * Vestibular –Peripheral (horizontal rotary nystagmus, slow phase toward hypoactive side, latency, fatigability, and accompanied by vertigo, tinnitus [checkorphan.org]

We report on a brother and sister with epiphyseal dysplasia and coxa vara, microcephaly, and short stature. [ncbi.nlm.nih.gov]

Coxa vara is rarely described in association with isolated epiphyseal dysplasia. We have seen 4 sibs, including a brother and sister who have epiphyseal dysplasia with coxa vara, microce- phaly, and short stature. [docslide.com.br]

Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. [orpha.net]

Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Last updated: 9/1/2008 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. [ncbi.nlm.nih.gov]

Overview A rare syndrome characterized by a small head, rapid involuntary eye movements (nystagmus) and abnormal development of the ends of long bones where growth occurs. [checkorphan.org]

head circumference [ more ] 0000252 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Abnormality of retinal pigmentation 0007703 Arthralgia Joint pain 0002829 Coxa vara 0002812 Intellectual disability [rarediseases.info.nih.gov]

Additional features of this condition include short stature, an unusually small head ( microcephaly ), progressive abnormal curvature of the spine ( kyphoscoliosis ), and other skeletal abnormalities. [ghr.nlm.nih.gov]

Some symptoms of Lowry-Wood are developmental disabilities, microcephaly (a small head), joint problems, trouble with balance, brain cysts and retinitis pigmentosa, an eye condition that causes tunnel vision and night blindness. [readingeagle.com]

DISCUSSION A boy and a girl in the family reported here have an hereditary skeletal dysplasia consisting of femoral epi- physeal dysplasia with bilateral developmental coxa vara, microcephaly (OFC 1.2). [docslide.com.br]

Dysplasia, and Abducens Palsy Mental Retardation, X-Linked Merlob Grunebaum Reisner Syndrome MERRF Syndrome MERRF/MELAS Overlap Syndrome Mesomelia-Synostoses Syndrome Metabolic Syndrome Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness [rgd.mcw.edu]

dysplasia. 7, 13 These values must be interpreted in the context of the patient's longitudinal growth, as well as the family background. [aafp.org]

Bilateral restricted elbow extension, knock knees and hip dislocation were also present. [ncbi.nlm.nih.gov]

Acetabular dysplasia is an uncommon, but not unknown, finding in multiple epiphyseal dysplasia, although in this case it is a solitary finding and is likely to be a consequence of congenital hip dislocation. [docslide.com.br]

He also had congenital bilateral hip dislocation and, by 4 years of age scoliosis. [ojrd.biomedcentral.com]

[…] disability Nystagmus Occasionally present symptoms in 5-29% of the cases: Abnormality of nail color Aplasia/hypoplasia of the corpus callosum Astigmatism Brachydactyly Delayed skeletal maturation Dislocated radial head Joint stiffness Patellar dislocation Platyspondyly [dovemed.com]

[…] or toes 0001156 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Dislocated radial head 0003083 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Patellar dislocation Dislocated kneecap 0002999 Platyspondyly [rarediseases.info.nih.gov]

And Nystagmus English OMIM 226960 L6473496 no S7501130 Y EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS French MedDRA French 10062600 L5026970 preferred S5714475 N Syndrome de Lowry-Wood French MedDRA French 10062600 L5026970 preferred S5714475 Y [doctor.am]

[…] surgery * Vestibular: Vestibular suppressant (meclizine, diazepam), vestibular adaptation exercises * Baclofen may be useful in periodic alternating nystagmus and some congenital nystagmus * Clonazepam for downbeat nystagmus Resources - Lowry Wood syndrome [checkorphan.org]

We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. [ncbi.nlm.nih.gov]

[…] are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium, psychiatric conditions or transient global amnesia [books.google.de]

Tn Syndrome Tollner Horst Manzke Syndrome Tolosa-Hunt syndrome Tonoki Syndrome tooth and nail syndrome Townes-Brocks syndrome Townes-Brocks-Branchiootorenal-Like Syndrome toxic encephalopathy trachoma Tranebjaerg Svejgaard syndrome transient global amnesia [rgd.mcw.edu]

nystagmus Resources - Lowry Wood syndrome Not supplied. [checkorphan.org]