| Ruzicka Goerz Anton syndrome | |
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| Patient with Ichthyosis |
Ruzicka Goerz Anton syndrome is a rare genetic disease described by Ruzicka et al. in 1981. It is characterized by icthyosis (rough, scaly skin), deafness, intellectual disability, and skeletal anomalies. [1] [2]
It is also known as "Ichthyosis deafness intellectual disability skeletal anomalies". [3]
The primary symptoms of Ruzicka Goerz Anton syndrome include ichthyosis, deafness, oligophrenia, and skeletal deformities. [1]
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Therapy with Ro 10-9359, a retinoid derivative, results in improvement of the ichthyosis portion of the syndrome. [4] [5]
In 1981, a case was studied by Ruzicka et al. of a 15-year-old girl. The patient had ichthyosis congenita as well as deafness and retarded mental development. Further studies showed several skeletal deformities including brachydactyly, clinodactyly, and extra ribs. One year earlier, the patient had developed thyroid carcinoma, but whether or not this is due to the syndrome is unknown. The patient was treated with an oral retinoid, which greatly improved the patient's ichthyosis. [4]
Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly. People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state.
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.
Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.
Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer. About 10% of people with the condition do not develop basal-cell carcinomas (BCCs).
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.
Neutral lipid storage disease is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes[1], muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling.
Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene.
Alazami syndrome is a rare autosomal recessive genetic disorder characterized by short stature, severe mental retardation, speech delay, skeletal deformities, intellectual disability, and distinctive facial features. Facial features include underdevelopment of the cheekbones, deep-set eyes, broad nose and an enlargement at the corners of the mouth (macrostomia). Skeletal deformities include scoliosis and mild epiphyseal changes in the first bones of the fingers, but no severe hip dislocation. It was first described by Alazami et al in 2012. The syndrome was presented by a Saudi Arabian family with primordial dwarfism syndrome with LARP7 gene variations. Some affected patients show the lack of voluntary coordination of muscle movements (Ataxia), manifested as a clumsy walking pattern, with frequent trips or falls.
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