Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. [mendelian.co]

stature Decreased body weight Thoracic kyphoscoliosis ... ... [familydiagnosis.com]

Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related [familydiagnosis.com]

At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. [ncbi.nlm.nih.gov]

Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. [ncbi.nlm.nih.gov]

Other rare diseases that you may find interesting PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 FIBROCHONDROGENESIS 2; FBCG2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA [mendelian.co]

ALAZAMI-YUAN SYNDROME Albinism Deafness Syndrome alcoholic hepatitis Aldred Syndrome Alice in Wonderland Syndrome Alien Hand Syndrome ALKURAYA-KUCINSKAS SYNDROME Allan-Herndon-Dudley syndrome Allanson Pantzar McLeod Syndrome Aloi Tomasini Isaia Syndrome Alopecia [rgd.mcw.edu]

Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related [familydiagnosis.com]

In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. [mendelian.co]

Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related [familydiagnosis.com]

In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. [mendelian.co]

Skeletal muscle atrophy MedGen UID: 902598 • Concept ID: C0234958 • Disease or Syndrome The presence of skeletal muscular atrophy (which is also known as amyotrophy). [ncbi.nlm.nih.gov]

Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild [mendelian.co]

Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy [genomics.senescence.info]

contracture Skeletal muscle atrophy Short stature Decreased body weight Thoracic kyphoscoliosis ... ... [familydiagnosis.com]

Elbow flexion contracture MedGen UID: 98367 • Concept ID: C0409338 • Acquired Abnormality A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. [ncbi.nlm.nih.gov]

contracture Generalized hypotonia Lumbar hyperlordosis Motor delay Muscular hypotonia Muscle weakness Flexion contracture Proximal muscle weakness Myopathy Elevated serum creatine phosphokinase Increased variability in muscle fiber diameter Frequent [mendelian.co]

Frontal bossing may simply be normal ... ... More on Frontal bossing » Delayed skeletal maturation : Summary A decreased rate of skeletal maturation. [familydiagnosis.com]

The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. [mendelian.co]

More on Triangular face » Bulbous nose : Summary Increased volume and globular shape of the anteroinferior aspect of the nose. 3, 4 ... ... [familydiagnosis.com]

Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. [mendelian.co]

Bulbous nose MedGen UID: 66013 • Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

More on Triangular face » Bulbous nose : Summary Increased volume and globular shape of the anteroinferior aspect of the nose. 3, 4 ... ... [familydiagnosis.com]

Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. [mendelian.co]

Bulbous nose MedGen UID: 66013 • Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

More on Bulbous nose » Frontal bossing : Frontal bossing refers to an abnormally high forehead, or a prominent forehead. Similar symptoms include a prominent brow, high forehead, and other forehead abnormalities. [familydiagnosis.com]

forehead, related diseases and genetic alterations [mendelian.co]

Homepage Rare diseases Search Search for a rare disease Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953 Synonym(s): Ruijs-Aalfs syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood, Adolescent [orpha.net]

The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. [ncbi.nlm.nih.gov]

Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy [genomics.senescence.info]

The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. [ncbi.nlm.nih.gov]

Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy [genomics.senescence.info]

Myers from the University of Oxford for providing healthy and HCC human liver biopsies and performing histological and immunohistochemical staining. The zebrafish γ-H2AX antibody was a kind gift of J. Amatruda (University of Texas Southwestern). [nature.com]