Herein, we report the clinical and genetic findings in a girl presenting with a serious multiple congenital anomaly syndrome with phenotypic features overlapping both SBBYSS and GTPTS; pointing out that the clinical distinction between these disorders [ncbi.nlm.nih.gov]

Subject: multiple congenital anomalies/mental retardation (MCA/MR) syndrome hypothyroidism blepharophimosis abnormal facies Ohdo syndrome Ohdo-like blepharophimosis syndrome Young-Simpson syndrome Country: EUA Editor: Lippincott Williams & Wilkins Citation [repositorio.unicamp.br]

Introduction The Say-Barber-Biesecker syndrome (SBBS, MIM 603736), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome 1 is a rare multiple congenital anomaly syndrome, which is usually diagnosed clinically on the basis of a striking [nature.com]

"Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis". Am J Med Genet. 90 (1): 85–6. doi : 10.1002/(SICI)1096-8628(20000103)90:1 3.0.CO;2-R. PMID 10602125. [en.wikipedia.org]

Tatsuro Kondoh, Eiichi Kinoshita, Hiroyuki Moriuchi, Norio Niikawa, Tadasi Matsumoto and Mitsuo Masuno, Young‐Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis, American Journal of Medical Genetics [doi.org]

The seven-time Grand Slam winner recalls feeling fatigue more than seven years ago, often going to the doctors but leaving experts baffled as to what was wrong. [dailymail.co.uk]

Other symptoms included fatigue, weakness, hemoptysis and pleuritic chest pain. Significant weight loss was uncommon, but often indicated lymphoma complicating SS and pulmonary amyloidosis. [em-consulte.com]

Seong-Hyop Kim, Tae-Yop Kim, Hwa Sung Jung, Joo-eun Kang, Chung Sik Oh, Duk Kyung Kim and Tae Gyoon Yoon, Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome - A case report -, Korean Journal of Anesthesiology [doi.org]

Associated with this are malnutrition, failure to gain weight, frequent chest infections, and exhaustion. In the presence of a complete cleft, the tongue may cause respiratory problems by going through the cleft and into the nose. [emedicine.medscape.com]

Genetic Summary Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome classically characterized by pre- and postnatal constitutional and organ overgrowth, macroglossia, omphalocele/umbilical hernia, facial nevus flammeus, hemihyperplasia, and [clincancerres.aacrjournals.org]

It is important to underline that the association of congenital hypothyroidism, blepharophimosis and ptosis allows an exact clinical diagnosis, since the majority of other clinical aspects are common to other disorders. [ncbi.nlm.nih.gov]

Young-Simpson Syndrome is a rare genetic disorder, characterized by facial dysmorphisms including blepharophimosis and ptosis, congenital hypothyrodism, and mental retardation. It was first described by Young and Simpson in 1987. [medigoo.com]

Symptoms - Young Simpson syndrome Symptoms include: Mental retardation hypothyroidism heart defects facial dysmorphism (including blepharophimosis and ptosis) growth delay Causes - Young Simpson syndrome A study of 19 individuals with YSS determined that [checkorphan.org]

Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening ( blepharophimosis ), droopy eyelids ( ptosis ), and abnormalities of the [familydiagnosis.com]

Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) Name: Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) See more descriptions. - Blepharophimosis-mental [snomedbrowser.com]

Ohdo Blepharophimosis Background Ohdo and his colleagues from Japan first described two sisters and a cousin with learning disabilities (see entry Learning disability ) associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis [contact.org.uk]

Ohdo S, Madokoro H, Sonoda T et al : Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth. J Med Genet 1986; 23 : 242–244. 16. [nature.com]

Manifestation of the Syndrome includes hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypothyroidism & even mental retardation & torticollis. [signssymptoms.org]

[…] disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation. [1] [2] Other symptoms include transient hypothyroidism, macular degeneration and torticollis [en.wikipedia.org]

Mental retardation and torticollis. Diagnosis: The diagnosis of Young-Simpson syndrome remains a clinical one and is usually made by a clinical geneticist on the basis of the physical features, after exclusion of other causes. [medigoo.com]

Associated features are webbing of the neck, scoliosis, torticollis, and, occasionally, Sprengel deformity, which is displacement of one or both scapulae. In some cases, patients have mental retardation. [emedicine.medscape.com]

Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). [familydiagnosis.com]

In SBBYS lower-extremity joint stiffness, long thumbs / great toes, immobile mask-like face, blepharophimosis/ptosis, and lacrimal duct anomalies are observed. [ncbi.nlm.nih.gov]

Also observed in GPS are flexion contractures of the hips and knees, clubfoot, agenesis of the corpus callosum with microcephaly, and hydronephrosis and/or multiple renal cysts. [ncbi.nlm.nih.gov]

GPS is generally considered more severe and also presents with patellar agenesis, structural brain defects, flexion contractures of the hips and knees, club feet and hydronephrosis and/or multiple renal cysts. [invitae.com]

impairment, and dental anomalies. [ncbi.nlm.nih.gov]

SBBYSS is usually associated with severe mental retardation, delayed motor milestones, significantly impaired speech, hearing impairment, abnormal ears and growth retardation. Male patients may have cryptorchidism and scrotal hypoplasia. [medical-dictionary.thefreedictionary.com]

Abstract In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low‐set ears and micrognathia [doi.org]

This syndrome is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. [medigoo.com]

nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. [orpha.net]

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly [monarchinitiative.org]

Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening ( blepharophimosis ), droopy eyelids ( ptosis ), and abnormalities of the [familydiagnosis.com]

SBBYS causes specific facial features, including prominent cheeks, a wide nasal bridge, and a nose with a rounded tip. SBBYS occurs in less than 1 in a million children. [diseaseinfosearch.org]

Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening ( blepharophimosis ), droopy eyelids ( ptosis ), and abnormalities of the [familydiagnosis.com]

Typically, patients have a distinctive mask-like face with severe blepharophimosis and ptosis, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip and small, low set ears. [nature.com]

Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. [ncbi.nlm.nih.gov]

232‐8555, Japan Search for more papers by this author First published: 07 April 1999 Cited by: 9 Abstract Young‐Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism [doi.org]

Manifestation of the Syndrome includes hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypothyroidism & even mental retardation & torticollis. [signssymptoms.org]

Cryptorchidism in males. Mental retardation and torticollis. [medigoo.com]

[…] disability syndrome, Say-Barber-Biesecker-Young-Simpson syndrome This condition is inherited via autosomal dominant manner Young–Simpson syndrome ( YSS ) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism [en.wikipedia.org]

The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene. [ncbi.nlm.nih.gov]

Also observed in GPS are flexion contractures of the hips and knees, clubfoot, agenesis of the corpus callosum with microcephaly, and hydronephrosis and/or multiple renal cysts. [ncbi.nlm.nih.gov]

GPS is generally considered more severe and also presents with patellar agenesis, structural brain defects, flexion contractures of the hips and knees, club feet and hydronephrosis and/or multiple renal cysts. [invitae.com]