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Watson Syndrome
Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation.[checkorphan.org]
Symptoms of Watson syndrome Café-au-lait spots Macrocephaly Broad neck Scoliosis Axillary freckles more symptoms...»[rightdiagnosis.com]
Watson syndrome Specialty Medical genetics Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris , axillary/inguinal freckling[en.wikipedia.org]
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Legius Syndrome
freckling and neurofibromas.[ncbi.nlm.nih.gov]
freckling, learning disabilities and macrocephaly.[ncbi.nlm.nih.gov]
Consider the possibility of Legius syndrome, which can be confirmed by molecular genetic analysis, in patients with six or more café au lait macules and axillary freckling[mdedge.com]
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Turcot Syndrome
Both children had features of neurofibromatosis type 1 including atypical café au lait spots and axillary freckling without a family history consistent with neurofibromatosis[ncbi.nlm.nih.gov]
freckling 0000997 Basal cell carcinoma 0002671 Cafe-au-lait spot 0000957 Ependymoma 0002888 Glioblastoma multiforme 0012174 Hypermelanotic macule Hyperpigmented spots 0001034[rarediseases.info.nih.gov]
freckling ; Basal cell carcinoma ; Cafe-au-lait spot ; Ependymoma ; Glioblastoma multiforme ; Hypermelanotic macule ; Leukemia ; Lymphoma ; Medulloblastoma ; Neuroblastoma[mousephenotype.org]
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Pheochromocytoma-Islet Cell Tumor Syndrome
One of Carney's patients showed cafe-au-lait spots, measuring up to 4 cm in diameter, and axillary freckling.[symptoma.com]
One of the patients described by Carney and colleagues presented cafe-au-lait spots and axillary freckling characteristic of NF1.[symptoma.com]
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Neurofibromatosis-Noonan Syndrome
He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis.[ncbi.nlm.nih.gov]
The cardinal features of NF1 include neurofibromas, café-au-lait spots, axillary and inguinal freckling, eye abnormalities comprising Lisch nodules, optic glioma and osseous[medicaljournals.se]
[…] and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature , typical facial features (hypertelorism, ptosis ,[rarediseases.info.nih.gov]
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Neurofibromatosis Type 1
freckling.[medical-dictionary.thefreedictionary.com]
Axillary freckling Axillary freckling (as well as freckling on the perineum), known as the Crowe sign, is a helpful diagnostic feature in neurofibromatosis (see the image[emedicine.medscape.com]
Physical examination revealed no cafè au lait spots, axillary freckling, Lisch nodules, or clinical signs of NF. Her family history was negative for NF.[mdedge.com]
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Stickler Syndrome Type 2
freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy confirmation of neurofibroma (scoliosis is also a relatively common musculoskeletal findnig) -Hearing impairment[quizlet.com]
The phenotype associated with NFLS consists of multiple café-au-lait macules, axillary freckling, and macrocephaly. Some patients also have learning disabilities.[chginc.org]
[…] cause abnormal facial features and central nervous system problems Neurofibromatosis type 2 phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary[quizlet.com]
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Ringed Hair Disease
freckling genetic disorders / phakomatosis / neurofibromatosis / Brushfield's spots genetic disorders / phakomatosis / neurofibromatosis / genetic disorders/ phakomatosis[dermquest.com]
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Renal Artery Stenosis
freckling.[ncbi.nlm.nih.gov]
On physical examination, axillary freckling and multiple café-au-lait spots were revealed over the trunk, while numerous small nodules were palpable on the limbs.[ncbi.nlm.nih.gov]
[…] hypertension, we reached a diagnosis of neurofibromatosis type 1 on the basis of a cluster of typical findings: optic nerve glioma, café au lait spots, nodular neurofibromas, and axillary[ncbi.nlm.nih.gov]
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Hip Dislocation
She had six cafβ-au-lait patches on her trunk and bilateral axillary freckling.[jmedicalcasereports.biomedcentral.com]
The clinical features of NF-1 include: cafβ-au-lait spots, Lisch nodules, axillary freckling, optic gliomas and peripheral neurofibromas.[jmedicalcasereports.biomedcentral.com]