Say Meyer Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

SAMES, SAY-MEYER SYNDROME, Say Meyer syndrome

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Introduction

Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out.

100 Clinical Results associated with Say Meyer Syndrome

100 Translational Medicine associated with Say Meyer Syndrome

0 Patents (Medical) associated with Say Meyer Syndrome

Literatures (Medical) associated with Say Meyer Syndrome

01 Jan 2020·European Journal of Medical GeneticsQ4 · MEDICINE

Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome

Q4 · MEDICINE

Article

Author: Somasekar Seshagiri ; Salah Basheer ; Lakshmi Dhevi N. Selvan ; Babylakshmi Muthusamy ; Jesna Manoj ; Deepshikha Chandel ; Thong T. Nguyen ; Akhilesh Pandey ; Srimonta Gayen ; Satish Chandra Girimaji ; Aravind K. Bandari

Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes of Say-Meyer syndrome with moderate to severe intellectual disability and autism spectrum disorder. Cytogenetics and array-based comparative genomic hybridization did not reveal any chromosome abnormalities or copy number alterations. Exome sequencing of the patients revealed a novel X-linked recessive splice acceptor site variant c.145-2A > G in intron 5 of HUWE1 gene in both affected siblings. RT-PCR and sequencing revealed the use of an alternate cryptic splice acceptor site downstream, which led to deletion of six nucleotides resulting loss of two amino acids p.(Cys49-Glu50del) in HUWE1 protein. Deletion of these two amino acids, which are located in a highly conserved region, is predicted to be deleterious and quite likely to affect the function of HUWE1 protein. This is the first report of a potential candidate gene mutation for Say-Meyer syndrome, which was initially described four decades ago.

01 Jul 2015·Child's Nervous SystemQ4 · MEDICINE

Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment

Q4 · MEDICINE

Article

Author: Salinas-Torres, Victor M

INTRODUCTIONIn 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences.CASE REPORTA Mexican 10-year-old boy with Say-Meyer syndrome is described. Additionally, he had C6 vertebral right pedicle agenesis, brachymesophalangy of the fifth fingers, bilateral widening of Sylvian fissure, and white matter amplitude as novel observed findings of the syndrome.CONCLUSIONThis appears to be the first Say-Meyer syndrome patient with extracranial skeletal anomalies. In light of these manifestations, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with a significant clinical variability. Moreover, increasing evidence points to a variable expressivity of the same autosomal dominant mutation. Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.

01 Jan 2013·Indian Journal of Endocrinology and Metabolism

A rare case of short stature: Say Meyer syndrome

Author: N Rajendra Prasad ; Rushikesh Maheshwari ; B. V. S. Chakradhar ; P Amaresh Reddy ; Bindu Menon ; TS Karthik ; P Radha Rani

INTRODUCTIONSay Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years.CASE REPORTA 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences.CONCLUSIONSay Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

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Say Meyer Syndrome

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