Keywords: Mental retardation, Nicolaides–Baraitser syndrome, seizures, short stature How to cite this article: Keen A, Majid I. Nicolaides–Baraitser syndrome. [ijpd.in]

The aforementioned abnormalities are probably responsible for short stature with or without GH deficiency, intellectual disability, seizures, and hearing loss. [pediatricneurosciences.com]

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short palpebral fissure Short opening between the eyelids 0012745 Status epilepticus Repeated seizures without recovery between them 0002133 Wide intermamillary distance Wide-spaced [rarediseases.info.nih.gov]

Definition A rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. [uniprot.org]

Symptoms - Nicolaides–Baraitser syndrome The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly [checkorphan.org]

[…] to thrive Faltering weight Weight faltering [ more ] 0001508 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Intrauterine growth retardation Prenatal growth deficiency [rarediseases.info.nih.gov]

The signs and symptoms of Nicolaides-Baraitser Syndrome may include: Absent speech Aggressive behavior Anteverted nares Brachydactyly Broad philtrum Cryptorchidism Everted lower lip vermilion Failure to thrive Intellectual disability, severe Intrauterine [dovemed.com]

All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis/acrodermatitis enteropathica, hyperpigmentation of the skin, very low insulin-like [ncbi.nlm.nih.gov]

[…] to thrive in infancy Myelodysplasia Plagiocephaly Cubitus valgus Radial deviation of finger Arnold-Chiari malformation Poor suck Patent foramen ovale Decreased antibody level in blood Abnormal form of the vertebral bodies Pachygyria Bicuspid aortic valve [mendelian.co]

The neonatal period was complicated by muscular hypotonia, feeding difficulties, and failure to thrive. Bilateral inguinal hernias were operated. Furthermore, mild aortic coarctation and cryptorchism were diagnosed. [karger.com]

[…] body height Small stature [ more ] 0004322 Unilateral narrow palpebral fissure 0007946 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Percent of people who have these symptoms is not available through HPO Absent eyebrow Failure [rarediseases.info.nih.gov]

All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis/acrodermatitis enteropathica, hyperpigmentation of the skin, very low insulin-like [ncbi.nlm.nih.gov]

Moreno-Pelayo Miguel Ángel, In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment, 10.1093/hmg/ddp249 Bryan Keith E., Rubenstein Peter A., Allele-specific Effects of Human Deafness γ-Actin Mutations [dial.uclouvain.be]

DUBOWITZ SYNDROME Is also known as ; Related symptoms: Intellectual disability Seizures Short stature Hearing impairment Microcephaly SOURCES: ORPHANET More info about DUBOWITZ SYNDROME Low match NOONAN SYNDROME 1; NS1 Noonan syndrome (NS) is an autosomal [mendelian.co]

[…] blue-green irises failure to thrive in infancy, sometimes requiring tube feeding thin hair that becomes wooly and curly with age abnormal pigmentation males with uni- or bilateral cryptorchidism (up to 80%) renal anomalies (dilation of renal pelvis) hearing [invitae.com]

In addition, the lack of choreoathetoid movements makes Lynch–Bushby syndrome unlikely ( Lynch et al., 1997 ). [journals.lww.com]

long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short phalanx of finger Short finger bones 0009803 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Thick lower lip vermilion [rarediseases.info.nih.gov]