Fever, and Hirsutism

Diseases related with Fever and Hirsutism

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

Top matches:

Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Other less relevant matches:

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Hirsutism

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hirsutism Hypertension Muscle weakness Hypertelorism Pain Osteoporosis Low-set ears Strabismus Micrognathia Growth delay Seizures Delayed skeletal maturation Short neck Skeletal muscle atrophy Cataract Abnormal facial shape Depressed nasal bridge Scoliosis Optic atrophy Global developmental delay Generalized hypotonia Low anterior hairline Kyphosis High palate Feeding difficulties Visual impairment Carcinoma Clinodactyly of the 5th finger Vomiting Narrow mouth Hip dysplasia Talipes equinovarus Everted lower lip vermilion Myopathy Hyporeflexia Inguinal hernia Hyperhidrosis Proptosis EMG abnormality Skeletal dysplasia Apnea Feeding difficulties in infancy Microcornea Gastroesophageal reflux Autism Constipation Cachexia Headache Nystagmus Hypertonia Myalgia Respiratory distress Weight loss Growth abnormality Confusion

Rare Symptoms - Less than 30% cases

Blepharophimosis Hypoplastic nipples Pectus carinatum Platyspondyly Flat face Abnormality of the urinary system Full cheeks Hypertrichosis Vertigo Multiple lipomas Decreased testicular size Bowing of the long bones Elbow flexion contracture Micromelia Prominent nasal bridge Respiratory tract infection Coxa valga Coxa vara Overfolded helix Camptodactyly Gastroparesis Abnormality of the pinna Attention deficit hyperactivity disorder Widely spaced teeth Self-injurious behavior Decreased body weight Pulmonary arterial hypertension Arthrogryposis multiplex congenita Pruritus Dysphagia Abnormality of the skeletal system Neurological speech impairment Anxiety Pes planus Elevated serum creatine phosphokinase Arrhythmia Respiratory insufficiency Severe short stature Gait disturbance Tremor Hepatomegaly Kyphoscoliosis Peripheral neuropathy Umbilical hernia Myotonia Hypertrophic cardiomyopathy Skeletal muscle hypertrophy Glaucoma Metatarsus valgus Splenomegaly Irregular hyperpigmentation Syndactyly Immunodeficiency Pulmonary embolism Visual loss Abdominal pain Joint stiffness Macrocephaly Craniosynostosis Hip dislocation Carious teeth Polymicrogyria Renal cyst Sudden cardiac death High myopia Thickened skin Abnormality of retinal pigmentation Hearing impairment Failure to thrive High pitched voice Weak voice Goiter Hip contracture Proteinuria Malignant hyperthermia Long philtrum Dry skin Blepharospasm Wrist flexion contracture Abnormality of immune system physiology Hypotrichosis Mask-like facies Cardiomyopathy Anemia Cleft palate Xerostomia Flexion contracture of toe Pursed lips Shoulder flexion contracture Long eyelashes in irregular rows Sensorineural hearing impairment Anteverted nares Abnormality of the dentition Lipoma Macroorchidism Malar flattening Encephalopathy Clinodactyly Recurrent urinary tract infections Brachycephaly Gynecomastia Gait ataxia Ischemic stroke Retrognathia Thin upper lip vermilion EEG abnormality Aggressive behavior Postnatal growth retardation Protruding ear Hypospadias Behavioral abnormality Hemangioma Neurofibromas Amenorrhea Abnormality of the cardiovascular system Fatigue Testicular neoplasm Congestive heart failure Dyspnea Stroke Intellectual disability, severe Ataxia Muscular hypotonia Nevus Cryptorchidism Delayed speech and language development Motor delay Autistic behavior Hyperactivity Synophrys Downturned corners of mouth Osteopenia Adrenal insufficiency Precocious puberty Sleep disturbance Hypoglycemia Highly arched eyebrow Small hand Increased body weight Astigmatism Thick eyebrow Facial asymmetry Open mouth Sarcoma Ragged-red muscle fibers Reduced tendon reflexes Macular degeneration Rhabdomyolysis External ophthalmoplegia Hypopigmented skin patches Thyroiditis Mutism Schizophrenia Pancreatitis Truncal ataxia Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Hyperthyroidism Cardiac arrest Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Anorexia Primary adrenal insufficiency Left ventricular hypertrophy Hyperkinesis Atrioventricular block Easy fatigability Bundle branch block Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Infertility Hemiplegia/hemiparesis Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Focal segmental glomerulosclerosis Abnormality of neuronal migration Hemiplegia Overlapping toe Aphasia Basal ganglia calcification Vestibular dysfunction Bilateral ptosis Hypercalciuria Dysphasia Hyperkalemia Decreased nerve conduction velocity Visual field defect Prolonged QT interval Vertebral fusion Bifid scrotum Chronic kidney disease Progressive sensorineural hearing impairment Glomerulopathy Involuntary movements Abnormal cerebellum morphology Hemiparesis Photophobia Hypogonadism Diabetes mellitus Cerebral cortical atrophy Hypothyroidism Acidosis Jaundice Polycystic ovaries Dementia Mental deterioration Developmental regression Erythema Abnormality of the liver Nyctalopia Azoospermia Myoclonus Rod-cone dystrophy Generalized tonic-clonic seizures Blindness Decreased fertility Hyperreflexia Dysarthria Clitoral hypertrophy Ventriculomegaly Abnormality of the thorax Cerebellar atrophy Cerebellar hypoplasia Diarrhea Dystonia Renal insufficiency Cerebral atrophy Depressivity Areflexia Dilated cardiomyopathy Lethargy Atrial fibrillation Pigmentary retinopathy Sensory impairment Migraine Increased serum lactate Memory impairment Specific learning disability Cerebral calcification Generalized-onset seizure Drowsiness Bilateral sensorineural hearing impairment Nephrotic syndrome Type II diabetes mellitus Status epilepticus Psychosis Ventricular hypertrophy Generalized myoclonic seizures Muscle cramps Ambiguous genitalia Dysmetria Ophthalmoplegia Congenital cataract Nausea and vomiting Malabsorption Delayed puberty Anal atresia Paresthesia Postural instability Ichthyosis Peripheral axonal neuropathy Lactic acidosis Nausea Nephropathy Polyneuropathy Coma Distal arthrogryposis Stereotypy Atopic dermatitis Odontogenic neoplasm Aplasia/Hypoplasia affecting the eye Abnormality of the pharynx Distichiasis Abnormally ossified vertebrae Protrusio acetabuli Prenatal movement abnormality Testicular torsion Abnormal eyebrow morphology Elevated aldolase level Abnormally straight spine Recurrent respiratory infections Sparse hair Obesity Thick vermilion border Trismus Sprengel anomaly Ectodermal dysplasia Increased bone mineral density Genu valgum Dental malocclusion Abnormality of the ribs Abnormality of the metaphysis Nephrolithiasis Abnormality of epiphysis morphology Wormian bones Abnormality of the ureter Laryngomalacia Dysphonia Ectopia lentis Elbow dislocation Spinal rigidity Increased number of teeth Hypodontia Sparse scalp hair Hyperlordosis Ectropion Nail dystrophy Lymphadenopathy Palmoplantar keratoderma Lymphoma Abnormality of the face Neoplasm of the skin Erythroderma Hepatosplenomegaly Gangrene Abnormality of the pleura Lichenification T-cell lymphoma Abnormal lymphocyte morphology Abnormal immunoglobulin level Skin rash Alopecia Hypohidrosis Anodontia Sparse eyelashes Absent eyebrow Anhidrosis Agenesis of permanent teeth Keratoconjunctivitis sicca Rhinitis Sparse lateral eyebrow Edema Conical tooth Absent nipple Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Periorbital wrinkles Abnormality of the forehead Abnormal number of teeth Irritability Low-set, posteriorly rotated ears Hashimoto thyroiditis Left ventricular failure Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Speech apraxia Cognitive impairment Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Wolff-Parkinson-White syndrome Visual hallucinations Motor polyneuropathy Progressive external ophthalmoplegia Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Heart block Hypoparathyroidism Mitochondrial myopathy Posterior subcapsular cataract Tubulointerstitial nephritis Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Renal tubular dysfunction Episodic vomiting Dysesthesia Polyhydramnios Homonymous hemianopia Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Abnormality of acid-base homeostasis Abnormal mitochondrial morphology Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Pectus excavatum Edema of the dorsum of hands Paronychia Psychomotor deterioration Auditory hallucinations Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Abnormal nerve conduction velocity Spotty hypopigmentation Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Increased CSF lactate Peters anomaly Dysplastic tricuspid valve Heterotopia Round face Decreased antibody level in blood Overgrowth Macule Epidermal acanthosis Abnormal form of the vertebral bodies Subcutaneous nodule Freckling Hypermelanotic macule Lymphedema Sinusitis Abnormal vertebral morphology Lymphopenia Abnormality of the nail Gliosis Abdominal distention Venous thrombosis Blue irides Thyroid carcinoma Generalized hypopigmentation Pituitary adenoma Hyperkeratosis Macrotia Intellectual disability, moderate Finger syndactyly Striae distensae Increased circulating cortisol level Dolichocephaly Bipolar affective disorder Abnormality of skin pigmentation Long face Growth hormone excess Abnormality of dental enamel Abnormality of the metacarpal bones Recurrent infections Abnormality of the wrist Neoplasm of the lung Exostoses Papilledema Capillary hemangioma Spinal cord compression Abnormality of finger Meningioma Cafe-au-lait spot Deep venous thrombosis Varicose veins Arteriovenous malformation Lower limb asymmetry Abnormality of the neck Hemihypertrophy Abnormal lung lobation Spinal canal stenosis Heart murmur Diabetes insipidus Palmoplantar hyperkeratosis Reduced number of teeth Lipodystrophy Chorioretinal coloboma Melanocytic nevus Hyperostosis Decreased muscle mass Generalized hyperpigmentation Hallux valgus Disproportionate tall stature Pericardial effusion Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Abnormality of cardiovascular system morphology Pheochromocytoma Arterial thrombosis Short palm Focal-onset seizure Flexion contracture Esotropia Prominent nose Short foot Midface retrusion Bulbous nose Abnormality of lower lip Hypermetropia Broad forehead Microtia Wide mouth Rigidity Talipes Febrile seizures Paroxysmal bursts of laughter Coarse facial features Tented upper lip vermilion Finger clinodactyly Short chin Absence seizures Sandal gap Hypoplasia of penis Infantile muscular hypotonia Focal impaired awareness seizure Hemifacial hypoplasia Language impairment Epileptic encephalopathy Cupped ear Polyphagia Short attention span Macrodontia Recurrent fractures Lumbar hyperlordosis Paraganglioma Follicular thyroid carcinoma Smooth tongue Abnormality of femoral epiphysis Profuse pigmented skin lesions Anterior bowing of long bones Cardiac myxoma Uterine leiomyoma Follicular hyperplasia Thyroid follicular hyperplasia Pituitary prolactin cell adenoma Downslanted palpebral fissures Fibroma Multiple lentigines Red hair Schwannoma Generalized muscle hypertrophy Myxoid subcutaneous tumors Joint contracture of the hand Frontal bossing Abnormal autonomic nervous system physiology Congenital hip dislocation Narrow palpebral fissure Sleep apnea Metaphyseal widening Short nose Constrictive median neuropathy Percussion myotonia Coronal cleft vertebrae Hypoplasia of the musculature Spinal deformities Cutaneous myxoma Temperature instability Talipes valgus Anisocytosis Buphthalmos Hypoplastic radial head Clubbing Astrocytoma Incoordination Deep philtrum Short metatarsal Pyloric stenosis Proximal placement of thumb Tricuspid regurgitation Relative macrocephaly Cutis marmorata Short middle phalanx of finger 2-3 toe syndactyly Ectopic kidney Opisthotonus Limited elbow extension Hypoplasia of the radius Torticollis Weak cry Congenital diaphragmatic hernia Triangular face Sepsis Vesicoureteral reflux Webbed neck Otitis media Microdontia Blue sclerae Spontaneous abortion Renal hypoplasia Low posterior hairline Abnormality of the ovary Choanal atresia Long eyelashes Aspiration Abnormality of digit Dislocated radial head Tapered finger Hypertropia Supernumerary ribs Adrenal hyperplasia Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Left-to-right shunt Hand oligodactyly Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Phocomelia Perimembranous ventricular septal defect Renal salt wasting Hypoplastic labia majora Oligodactyly Ectrodactyly Poor appetite Hiatus hernia Aspiration pneumonia Esophagitis Abnormality of the gastrointestinal tract Short sternum Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Panhypopituitarism Dental crowding Delayed eruption of teeth Single transverse palmar crease Myofibrillar myopathy Facial hyperostosis Tall stature Calvarial hyperostosis Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal Nevus sebaceous Lymphangioma Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Epidermal nevus Upper limb asymmetry Connective tissue nevi Asymmetry of the thorax Thin bony cortex Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Vascular skin abnormality Keloids Thrombophlebitis Generalized hyperkeratosis Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Nephrogenic diabetes insipidus Central heterochromia Depigmentation/hyperpigmentation of skin High, narrow palate Small for gestational age Reduced amygdala volume Telecanthus Premature pubarche Adrenocortical carcinoma Pallor Adrenogenital syndrome Pulmonic stenosis Mandibular prognathia Toe syndactyly Abnormal spermatogenesis Congenital adrenal hyperplasia Cleft upper lip Thin vermilion border Pulmonary hypoplasia Conductive hearing impairment Prominent forehead Hypertrophy of skin of soles Ventricular septal defect Mandibular hyperostosis Palpitations Abnormality of the skin Papule Wide nasal bridge Intrauterine growth retardation Hydrocephalus Pneumonia Abnormality of the eye Atrial septal defect Proximal muscle weakness Thrombocytopenia Hernia Abnormal heart morphology Cutaneous T-cell lymphoma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Diabetes mellitus, related diseases and genetic alterations Optic atrophy and Carious teeth, related diseases and genetic alterations