• Close examination demonstrated the scalp hairs were very brittle, coarse, wiry in texture, and broke off quite easily with mechanical trauma such as combing and brushing. (wikipedia.org)
  • Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system. (wikipedia.org)
  • Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). (biomedcentral.com)
  • Syndromic diarrhea (SD), also known as Phenotypic diarrhea (PD) or Tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset severe intractable diarrhea in infants born Small for Gestational Age (SGA) and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological abnormalities involving the epithelium. (biomedcentral.com)
  • Syndromic diarrhea - Phenotypic diarrhea - Tricho-hepato-enteric syndrome - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - Neonatal hemochromatosis phenotype with intractable diarrhea and hair abnormalities - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency. (biomedcentral.com)
  • Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. (wikipedia.org)
  • Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. (wikipedia.org)
  • The well-known clinical-based classification of ectodermal dysplasias (EDs) proposed by Freire-Maia [1971, 1977] lies on the occurrence of alterations in hair, teeth, nails, and sweat glands, whose frequencies are 87.1%, 78.5%, 73%, and 37.4%, respectively. (docksci.com)
  • Because the disease appears to be inherited in an autosomal recessive pattern, detection of low-sulfur brittle hair syndrome is also important for genetic counseling. (wikipedia.org)
  • Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. (wikipedia.org)
  • Amino acid analyses of control hair when compared with those of patients with the Sabinas syndrome showed very striking differences with regard to content of sulphur amino acids. (wikipedia.org)
  • Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature. (biomedcentral.com)
  • The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine. (wikipedia.org)
  • Sometimes, the difference between syndromes comes down to one or to a few features [Brunner and van Driel, 2004]. (docksci.com)
  • Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. (nih.gov)
  • Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system. (wikipedia.org)
  • Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. (wikipedia.org)
  • Because the disease appears to be inherited in an autosomal recessive pattern, detection of low-sulfur brittle hair syndrome is also important for genetic counseling. (wikipedia.org)
  • Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. (wikipedia.org)
  • Trichothiodystrophy, non-photosensitive type 4 (TTD4), is a rare genetic disorder with an autosomal recessive mode of inheritance. (nih.gov)
  • Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. (nih.gov)
  • A rare autosomal recessive inherited syndrome. (beds.ac.uk)
  • Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al. (beds.ac.uk)
  • The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. (wikipedia.org)
  • 3. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. (nih.gov)
  • Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. (nih.gov)
  • Close examination demonstrated the scalp hairs were very brittle, coarse, wiry in texture, and broke off quite easily with mechanical trauma such as combing and brushing. (wikipedia.org)
  • It is characterized by coarse and brittle hair, anomalies of the tissues derived from the neuro-ectoderm (skin, hair, and nails) and intellectual disability. (nih.gov)
  • Trichothiodystrophy represents a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. (wikipedia.org)
  • 15. Genetic Hair Disorders: A Review. (nih.gov)
  • 2. Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. (nih.gov)
  • 7. Solving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child). (nih.gov)
  • growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia). (nih.gov)
  • Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). (beds.ac.uk)
  • A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4. (nih.gov)
  • Symptoms include brittle hair, mild mental retardation and nail dysplasia. (wikipedia.org)
  • Review of literature reveals extensive associated findings in trichothiodystrophy. (wikipedia.org)
  • Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). (nih.gov)
  • Some hairs could be visualized in their follicles, which were broken off at the skin line. (wikipedia.org)
  • First phase in hair cycle characterized by growth of hair follicles. (medscape.com)
  • Amino acid analyses of control hair when compared with those of patients with the Sabinas syndrome showed very striking differences with regard to content of sulphur amino acids. (wikipedia.org)
  • [ 8 ] When comparing hair color with a parent, it is important to note that hair color may change during puberty because of an increase in melanocyte pigment in response to increased hormonal levels. (medscape.com)
  • Different hair colors result from the relative amount and type of melanin. (medscape.com)
  • The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine. (wikipedia.org)
  • 6. Apparent fragility of African hair is unrelated to the cystine-rich protein distribution: a cytochemical electron microscopic study. (nih.gov)
  • A pattern of hair growth characterized by a clockwise spiral or coil. (medscape.com)
  • Hair length is related to length of time the hair is in the anagen phase and is unique to a specific body area. (medscape.com)
  • HN - 2008 MH - Acute Coronary Syndrome UI - D054058 MN - C14.280.647.124 MN - C14.907.585.124 MS - An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode but that does not usually result in MYOCARDIAL INFARCTION. (nih.gov)
  • Lighter pigmented, fine hair that may be present on the forehead and face. (medscape.com)