Cardiomyopathy, and Pheochromocytoma

Diseases related with Cardiomyopathy and Pheochromocytoma

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Pheochromocytoma that can help you solving undiagnosed cases.


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Medium match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

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Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Low match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Low match PARAGANGLIOMAS 1; PGL1


Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (OMIM ). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (OMIM ).Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of ParagangliomasSee also PGL4 (OMIM ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; PGL3 (OMIM ), caused by mutation in the SDHC gene (OMIM ) on chromosome 1q21; PGL2 (OMIM ), caused by mutation in the SDHAF2 gene (OMIM ) on chromosome 11q13; and PGL5 (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15.

PARAGANGLIOMAS 1; PGL1 Is also known as paraganglioma, carotid body|glomus tumors, familial, 1|cbt1|glomus jugulare tumors|paragangliomas, familial, 1|chemodectomas|paragangliomas, familial nonchromaffin, 1|carotid body tumors|pgl|paragangliomata

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hyperhidrosis
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 1; PGL1

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Paraganglioma Uncommon - Between 30% and 50% cases
Neoplasm of the endocrine system Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy Short stature Scoliosis Pituitary prolactin cell adenoma Pain Atherosclerosis Leiomyosarcoma Growth hormone excess Acanthosis nigricans Mitral regurgitation Seizures Hyperhidrosis Neurofibromas Abnormality of the dentition Depressivity

Rare Symptoms - Less than 30% cases


Parathyroid adenoma Intellectual disability, mild Sparse hair Tachycardia Hydrocephalus Abnormality of the skeletal system Renal cell carcinoma Intracranial hemorrhage Macrocephaly Flexion contracture Visual impairment Cognitive impairment Ptosis Vestibular Schwannoma Abnormal facial shape Carcinoid tumor Schwannoma Headache Abnormality of cardiovascular system morphology Emphysema Overgrowth Premature graying of hair Hypercholesterolemia Cafe-au-lait spot Exertional dyspnea Lipoatrophy Scleroderma Aortic valve stenosis Abnormality of the cardiovascular system Absent eyelashes Increased circulating cortisol level Mitral valve calcification Intellectual disability Hypertriglyceridemia Stroke Osteopenia Growth delay Carcinoma Failure to thrive Osteoporosis Facial asymmetry Blindness Osteoarthritis Kyphosis Recurrent paroxysmal headache Adrenal pheochromocytoma Left ventricular hypertrophy Conductive hearing impairment Coarse facial features Pituitary adenoma Hypertension associated with pheochromocytoma Dilated cardiomyopathy Paresthesia Pituitary growth hormone cell adenoma Prolactin excess Macrotia Fatigue Dyspnea Dementia Hoarse voice Galactorrhea Cyanosis Increased serum insulin-like growth factor 1 Growth hormone deficiency Nail dysplasia Thin skin Moon facies Menstrual irregularities Myocardial infarction Abdominal obesity Convex nasal ridge Prolactinoma Dorsocervical fat pad Cardiomegaly Cataract Broad-based gait Osteolysis Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Nasal speech Dermal atrophy Relative macrocephaly Hyperlipidemia Bruising susceptibility Aminoaciduria Decreased body weight Epidermal acanthosis Coxa valga Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Increased bone mineral density Aspiration Sparse and thin eyebrow Insulin resistance Hypohidrosis Dental crowding Chest pain Limitation of joint mobility Vagal paraganglioma Chemodectoma Extraadrenal pheochromocytoma Hypogonadism Glomus jugular tumor Hypoplastic right heart Loss of voice Prominent forehead Elevated circulating catecholamine level Alopecia Narrow mouth Midface retrusion Glomus tympanicum paraganglioma Malar flattening Short nose Pulmonary chondroma Gastric leiomyosarcoma Skeletal muscle atrophy Hearing impairment Micrognathia Pulsatile tinnitus Episodic paroxysmal anxiety Postural instability Delayed puberty Sensorineural hearing impairment Palpitations Hypodontia Delayed eruption of teeth Hepatic steatosis Thin vermilion border Cranial nerve paralysis Dysphonia Infertility Narrow chest Proptosis Carious teeth Hypotrichosis Hypermetropia Hip dislocation Microtia Neoplasm of the lung Vocal cord paralysis Joint stiffness Chronic obstructive pulmonary disease Metaphyseal widening Generalized osteoporosis Abnormality of the thorax Hirsutism Ovarian cyst Thyroid carcinoma Neoplasm of the pancreas Ovarian neoplasm Colon cancer Hypermelanotic macule Polycystic ovaries Neoplasm of the skin Subcutaneous nodule Nevus Sudden cardiac death Hemiareflexia Hypoplasia of the musculature Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Hemihypertrophy Communicating hydrocephalus Myelomeningocele Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Stomach cancer Red hair Bicuspid aortic valve Histiocytoma Abnormality of circulating adrenocorticotropin level Thyroid follicular hyperplasia Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Profuse pigmented skin lesions Blue nevus Hepatocellular adenoma Pigmented micronodular adrenocortical disease Cardiac myxoma Bronchogenic cyst Multiple lentigines Uterine neoplasm Nodular goiter Fibroadenoma of the breast Increased urinary cortisol level Abnormal prolactin level Osteochondroma Pancreatic adenocarcinoma Thyroid adenoma Adrenocortical carcinoma Testicular neoplasm Neoplasm of the breast Enlarged polycystic ovaries Nephroblastoma Inguinal hernia Heart murmur Hyperphosphatemia Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Down-sloping shoulders Arteriosclerosis Fragile nails Transient ischemic attack Abnormal EKG Thrombocytosis Alopecia of scalp Short clavicles Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Prolonged QT interval High pitched voice Multiple joint contractures Prolonged prothrombin time Narrow nasal ridge Hernia Reticulated skin pigmentation Cryptorchidism Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Hypoplastic facial bones Aplastic clavicle Prominent scalp veins Bird-like facies Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Obesity Neonatal hypotonia Vertigo Malabsorption Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Genu valgum Pulmonic stenosis Aganglionic megacolon Pruritus Leukemia Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypoglycemia Kyphoscoliosis Autism Weight loss Glaucoma Hypsarrhythmia Bone pain Abnormal heart morphology Tibial bowing Brain neoplasm Myocardial fibrosis Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Multiple cafe-au-lait spots Freckling Pulmonary fibrosis Sensorimotor neuropathy Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Spina bifida Hyperactivity Visual loss Aqueductal stenosis Migraine Acne Growth abnormality Sleep apnea Cerebral palsy Widely spaced teeth Abnormality of the fingernails Generalized hirsutism Thickened skin Tall stature Thick lower lip vermilion Full cheeks Impotence Macroglossia Tapered finger Wide nose Long face Synophrys Broad forehead Anxiety Arthralgia Mandibular prognathia Diabetes mellitus Frontal bossing Large hands Generalized hyperpigmentation Dilatation Macrodactyly Behavioral abnormality Respiratory insufficiency Dysarthria Peripheral neuropathy Delayed speech and language development Anemia Hypertelorism Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Dysmenorrhea Spinal canal stenosis Deep plantar creases Hypersomnia Long penis Anterior hypopituitarism Deep palmar crease Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Joint swelling Palpebral edema Astrocytoma Complete atrioventricular canal defect Stress/infection-induced lactic acidosis Dystonia Retinopathy Respiratory tract infection Developmental regression Proximal muscle weakness Acidosis Respiratory failure Myoclonus Babinski sign Arrhythmia Absent speech Hypertonia Lactic acidosis Diarrhea Vomiting Myopathy Dysphagia Optic atrophy Hyperreflexia Motor delay Spasticity Muscle weakness Nystagmus Ophthalmoplegia Tetraplegia Microcephaly Rhabdomyolysis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Left ventricular noncompaction Ketonuria Preeclampsia Ketosis Oral-pharyngeal dysphagia Generalized muscle weakness Easy fatigability Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Exercise intolerance Congenital hip dislocation Leukodystrophy Spastic tetraplegia Pigmentary retinopathy Increased serum lactate Generalized myoclonic seizures Ataxia Generalized hypotonia Anomalous pulmonary venous return Soft tissue sarcoma Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Epigastric pain Plexiform neurofibroma Dural ectasia Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Night sweats Acute promyelocytic leukemia Inguinal freckling Global developmental delay Aortic root aneurysm Abnormality of the intrahepatic bile duct Aortic atherosclerosis Pulmonary carcinoid tumor Loss of eyelashes Coronary artery stenosis Papillary renal cell carcinoma Abnormality of the pulmonary artery Squamous cell carcinoma of the skin Alopecia universalis Premature skin wrinkling Prematurely aged appearance Spinal neurofibromas Reduced subcutaneous adipose tissue Basal cell carcinoma Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Absent eyebrow Sparse scalp hair Ventricular hypertrophy Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Intra-oral hyperpigmentation



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