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10 Possible Causes for Cafe-Au-Lait Spots, Fetus Small for Gestational Age, Pallor

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.com] Nocturnal sweating was the commonest symptom (23.96%), followed by irritability (11.46%), tantrums (7.29%), pallor and shakiness (3.13%).[ncbi.nlm.nih.gov] […] problems: the baby is uninterested in feeding and takes only small amounts with difficulty Hypoglycemia Excessive sweating as a baby, especially at night, and a greyness or pallor[en.wikipedia.org]

  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] […] for signs/symptoms incl hematuria & a painless abdominal mass Every 3 mos from time of diagnosis to age 8 yrs Leukemia Screening & family education on signs/symptoms incl pallor[ncbi.nlm.nih.gov] Clinical signs of anemia, such as brittle nails, cheilosis and pallor of the palpebral mucosa or nail beds, may also suggest malignancy.[aafp.org]

  • Autosomal Recessive Primary Microcephaly Type 10

    Au Lait Spots, Multiple MSH2 Carcinoma, Lobular CDH1 Carcinoma, Merkel Cell MYC Carcinoma, Squamous Cell Of Head And Neck TP53 Carcinosarcoma VIM Cardioencephalomyopathy,[selfdecode.com] […] included macular alterations (gross pigment mottling and/or chorioretinal atrophy in fifteen eyes (75.0%, and optic nerve abnormalities (hypoplasia with double-ring sign, pallor[worldwidescience.org] Medical professionals typically diagnose the fetus as being small for gestational age, or as showing intrauterine growth restriction when an ultrasound is conducted.[en.wikipedia.org]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Recurrent fractures Long philtrum Overfolded helix Hyperactivity Hypoplastic toenails Polydactyly Aplasia/Hypoplasia of the eyebrow Umbilical hernia Freckling Retinopathy Cafe-au-lait[mendelian.co] […] shunt malfunction due to ventricular catheter abutting against ventricular wall have been blamed Clinical features include attacks of headaches, vomiting, drowsiness and pallor[thamburaj.com] They were a 3-year- old girl and an aborted fetus of 21 weeks of gestation.[dev.docslide.net]

  • Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome

    Generalized lentiginosis is characteristic but they may not be present until age 4 or 5 years following the appearance of cafe-au-lait spots.[disorders.eyes.arizona.edu] Postoperatively, she has been noted to have mild retinal vessel tortuosity and bilateral temporal pallor of each optic nerve.[jmg.bmj.com] Alzheimer disease Acute megakaryocytic leukemia Neoplasm of the breast Renal cell carcinoma Cystic hygroma Ovarian neoplasm Acute myeloid leukemia Megalencephaly Multiple cafe-au-lait[mendelian.co]

  • Kondoh Syndrome

    Hyperextensible skin Open mouth Narrow forehead Low posterior hairline Scarring Dental malocclusion Abnormal bleeding Webbed neck Redundant skin Optic nerve hypoplasia Multiple cafe-au-lait[mendelian.co] […] clinical features of neuroleptic malignant syndrome includes the following: Muscular rigidity (typically, “lead pipe” rigidity) Hyperthermia (temperature 38 C) Diaphoresis Pallor[emedicine.medscape.com] spots Sparse eyebrow Curly hair Submucous cleft hard palate Underdeveloped supraorbital ridges Generalized hyperpigmentation Long palpebral fissure Absent eyebrow Biparietal[mendelian.co]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    au lait spot on left knee, and locked-knee gait.[coriell.org] In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients.[mendelian.co] A family history of the disorder may raise the possibility of the diagnosis antenatally in a fetus which appears to be small for gestational age.[patient.info]

  • Spastic Paraplegia - Precocious Puberty

    Cafe-au-lait spots and increased pigmentation of the hands, feet, and circumoral areas are frequently present.[disorders.eyes.arizona.edu] Waardenburg‘s syndrome The manifestations of this syndrome are piebaldism, pallor of the iris, wide epicanthic folds and nerve deafness.[drmhijazy.com] The infant may be small for gestational age and exhibit hyperbilirubinemia, thrombocytopenia, and hepatomegaly.[medical-dictionary.thefreedictionary.com]

  • Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

    au lait spots, syndactyly, polydactyly and clinodactyly - Normal IQ - primary hypogonadism Issue is INCREASED CANCER RISK, esp lymphoma, leukaemia, carcinomas and Wilm's[quizlet.com] Other associated features included corneal opacities, micro cornea, iris heterochromia and optic nerve head pallor/atrophy.[omicsonline.org] […] for gestational age ( SGA ), seizures, lethargy, poor suck, hemolytic anemia, thrombocytopenia, pneumonia Late complications: hearing loss, vision impairment, psychomotor[amboss.com]

  • Hunermann Conradi Syndrome

    […] nervous system Epicanthus Alopecia Clinodactyly of the 5th finger Kyphosis Rare Symptoms - Less than 30% cases Dysarthria Hypertelorism Abnormality of the skeletal system Cafe-au-lait[mendelian.co] The ultrasound scan demonstrated a small fetus (crown–rump length of 83.5 mm consistent with a gestational age of 13 weeks), nuchal oedema (nuchal translucency 8.8 mm), what[jmg.bmj.com] […] microphthalmos Drusen Abnormality of visual evoked potentials Intellectual disability, profound High myopia Spastic tetraplegia Asthma Generalized myoclonic seizures Tetraplegia Pallor[mendelian.co]

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