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11,379 Possible Causes for Small, Deep-Set Eyes, Urine Hyaluronic Acid Increased

  • Kenny-Caffey Syndrome Type 1

    […] hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes[malacards.org] All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[unboundmedicine.com] There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear[scienceopen.com]

    Missing: Urine Hyaluronic Acid Increased
  • Sanjad-Sakati Syndrome

    […] microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set[orpha.net] Dysmorphism is most evident on the face, with the following features: Long narrow face Deep-set, small eyes Beaked nose Large, floppy ears Small head ( microcephaly ) and[en.wikipedia.org] All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Alagille Syndrome

    Besides causing neonatal jaundice, it affects many body systems and is associated with pulmonary valvular stenosis, peripheral pulmonary stenosis, deep-set eyes with anterior[medical-dictionary.thefreedictionary.com] The bile ducts pertain to the small tubes found in the liver; their main job is to carry bile from the liver to the small intestine.[symptoma.com] Here, we review the main features of Alagille syndrome with special focus on oro-facial manifestations like prominent forehead, moderate hypertelorism with deep-set eyes,[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • SHORT Syndrome

    The condition is characterized by short stature, intrauterine growth restriction, lipoatrophy and a facial gestalt involving a triangular face, deep set eyes, low hanging[ncbi.nlm.nih.gov] In addition, no one had small feet. The small toes in BFL were different and the muscle wasting and neurological findings shown in table 1 were not present.[jmg.bmj.com] […] each letter representing a common feature in affected individuals: (S) short stature ; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set[rarediseases.info.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Monosomy 1p36 Syndrome

    Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. / Rosenfeld, Jill A.; Crolla, John[einstein.pure.elsevier.com] Clinical findings were generalised obesity with a body mass index 95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight[ncbi.nlm.nih.gov] eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 EEG abnormality 0002353 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Gait disturbance Abnormal[rarediseases.info.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Freeman-Sheldon Syndrome

    Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose.[ncbi.nlm.nih.gov] Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and 'H' shaped cutaneous dimple on the chin.[ncbi.nlm.nih.gov] Most patients with small orifice often have difficulties in oral hygiene maintenance, and it gives rise to loss of some of the teeth.[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Mowat-Wilson Syndrome

    Microarray comparative genomic hybridization (array comparative genomic hybridization) may help prenatal diagnosis by revealing small genetic defects.[ncbi.nlm.nih.gov] Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin[uniprot.org] 80%-99% of people have these symptoms Abnormal eyebrow morphology Abnormality of the eyebrow 0000534 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490[rarediseases.info.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Growth Failure

    […] and posteriorly rotated ears, deep-set eyes, long eyelashes, bulbous nose, wide and low-hanging collumella and short neck.[hormones.gr] Postnatal growth of children born small for gestational age.[scielo.br] […] has a proportionally small head.[pediatrics.aappublications.org]

    Missing: Urine Hyaluronic Acid Increased
  • Ruijs Aalfs Syndrome

    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[ncbi.nlm.nih.gov] Micrognathia MedGen UID: 44428 • Concept ID: C0025990 • Congenital Abnormality A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small[ncbi.nlm.nih.gov] […] nasal bridge, small upper lip, and micrognathia.[ncbi.nlm.nih.gov]

  • Disorder of Sex Development - Intellectual Disability Syndrome

    Showing of 31 80%-99% of people have these symptoms Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Downturned corners of mouth Downturned corners of[rarediseases.info.nih.gov] In females, the clitoris and labia may be small.[mayoclinic.org] 0001249 Kyphosis Hunched back Round back [ more ] 0002808 Low posterior hairline Low hairline at back of neck 0002162 Low-set, posteriorly rotated ears 0000368 Microtia Small[rarediseases.info.nih.gov]

    Missing: Urine Hyaluronic Acid Increased

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