Affected patients present with facies characterized by the presence of microphthalmia, asymmetrical ears, anteverted nares, long flat philtrum associated with a thin upper lip, and micrognathia. [accessanesthesiology.mhmedical.com]

Twenty (36.4%) presented isolated uterovaginal aplasia (MRKH type I). [ojrd.biomedcentral.com]

Although variable levels of mental retardation are common, many different important situations are present. [maicc.org]

‘Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum’ (2006) EYA1 Stickler syndrome – Hereditary progressive arthro-ophthalmopathy – Cervenka syndrome AD/AR 12q13.11-q13.2 [link.springer.com]

Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti [malattierare.toscana.it]

• Multiple Congenital Anomalies

  Goodman}, journal={Journal of craniofacial genetics and developmental biology}, year={1987}, volume={7 1}, pages={ 19-22 } } We report on an infant with multiple congenital anomalies, involving mainly the face, thorax, and genitalia. [semanticscholar.org]

  Abstract We report on an infant with multiple congenital anomalies, involving mainly the face, thorax, and genitalia. [pubmed.ncbi.nlm.nih.gov]

  anomalies, mental retardation, athetoid cerebral palsy Multiple congenital anomalies, Hirschsprung disease, Toriello type (1988) Multiple congenital anomalies, mental retardation, Buenos Aires type -Mutchinick syndrome AR Multiple congenital anomalies [link.springer.com]

• Developmental Delay

  Smith-Lemli-Opitz Syndrome Type I: Characterized by severe growth retardation, developmental delay, severe dysphagia, microcephaly, micrognathia, cleft palate, cataracts, ptosis, polysyndactyly and syndactyly of the second and third toes, and congenital [accessanesthesiology.mhmedical.com]

  In the four other cases, uterovaginal aplasia was associated with unilateral renal agenesis and other manifestations (facial anomalies, mild developmental delay, hypoparathyroïdism, skeletal or heart defect) [45–47]. [ojrd.biomedcentral.com]

• Flexion Contracture

  […] and anomalies of fingers/toes Del 2p Chromosome 2 Beaked nose with abnormal bridge, deep-set eyes, myopia, high narrow palate, low-set abnormal ears, scoliosis, pectus carinatum, long slender fingers with flexion contractures, spasticity and hypertonia [link.springer.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

The pharmacologic treatment of alternative for patients with hypothyroidism is sodium levothyroxine (T4). [maicc.org]

Specific inquiry about vegetative signs of depression and exclusion of different causes help assist this prognosis. [maicc.org]

The etiology is unknown, however many manifestations of scleroderma are secondary to vasculopathy. [maicc.org]

Its etiology remains poorly understood. Thus the phenotypic manifestations of MRKH and DGS overlap suggesting a possible genetic link. This would potentially have clinical consequences. [ojrd.biomedcentral.com]

Pathophysiology Pathophysiology is multifactorial and incompletely understood, with interplay of genetic predisposition and environmental components. [maicc.org]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

To prevent adjustments in the size of the fuel bubble, the sufferers ought to be given 100 percent O2 quarter-hour before injection of sulfur hexafluoride. [maicc.org]