Fever, and Amenorrhea

Diseases related with Fever and Amenorrhea

In the following list you will find some of the most common rare diseases related to Fever and Amenorrhea 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

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Other less relevant matches:

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

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

Top 5 symptoms//phenotypes associated to Fever and Amenorrhea

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Primary amenorrhea Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Seizures Hypogonadism Neoplasm Abnormal facial shape Nystagmus Patent ductus arteriosus Edema Delayed speech and language development Vomiting Ptosis Hypertelorism Growth delay High palate Microcephaly Ventricular septal defect Bicuspid aortic valve Hernia Abnormal heart morphology Specific learning disability Short neck Scoliosis Muscular hypotonia Strabismus Cataract Ventriculomegaly Intellectual disability, mild Abnormality of the pinna Atrial septal defect Hypothyroidism Posteriorly rotated ears Micrognathia Anemia Hypertension Generalized hypotonia Obesity Muscle weakness Diabetes mellitus Micropenis Recurrent infections Abnormality of the dentition Kyphosis Cleft palate Abnormality of the cardiovascular system Osteoporosis Attention deficit hyperactivity disorder Vitiligo Hypoparathyroidism Congenital cataract Dysmetria Weight loss Inflammation of the large intestine Abnormality of the kidney Polyneuropathy Psoriasiform dermatitis Polymicrogyria Motor delay Nasal speech Schizophrenia Arnold-Chiari malformation Adrenal insufficiency Purpura Azoospermia Low posterior hairline Delayed puberty Psychosis Seborrheic dermatitis Delusions Apnea Feeding difficulties Pain Lethargy Sensorineural hearing impairment Chorea Dementia Hydrocephalus Clinodactyly Cerebral atrophy Behavioral abnormality Hypogonadotrophic hypogonadism Congestive heart failure Peripheral demyelination Failure to thrive Abnormality of cardiovascular system morphology Hyperreflexia Ataxia Hypoglycemia Peripheral neuropathy Thrombocytopenia Mental deterioration Psychotic episodes Epicanthus

Rare Symptoms - Less than 30% cases

Wide intermamillary distance High, narrow palate Radial deviation of finger Hypoplasia of the corpus callosum Coarctation of aorta Anal atresia Leukemia Hemolytic anemia Bulbous nose Hypotrichosis Poor suck Pulmonic stenosis Conductive hearing impairment Inguinal hernia Plagiocephaly Hyperactivity Depressivity Amblyopia Retrognathia Bifid uvula Umbilical hernia Arthritis Autoimmunity Anxiety Immunodeficiency Left ventricular hypertrophy Blepharophimosis Clumsiness Cerebellar atrophy Ventricular hypertrophy Failure to thrive in infancy Intellectual disability, severe Rheumatoid arthritis Renal agenesis Aplasia of the thymus Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Arteria lusoria Hypertonia Constipation Right aortic arch with mirror image branching Sacral meningocele Dilatation Headache Cryptorchidism Splenomegaly Low-set ears Depressed nasal bridge Brachydactyly Myopia Flexion contracture Narrow mouth Abnormal cardiac septum morphology Acne Tetralogy of Fallot Renal dysplasia Hallucinations Spina bifida Hypocalcemia Narrow palpebral fissure Cholelithiasis Cardiomyopathy Generalized tonic-clonic seizures Unilateral renal agenesis Low-set, posteriorly rotated ears Myelomeningocele Basal ganglia calcification Hypertrophic cardiomyopathy Autoimmune hemolytic anemia Gastroesophageal reflux Proptosis Abdominal pain Autoimmune thrombocytopenia Rod-cone dystrophy Bipolar affective disorder Meningocele Truncus arteriosus Posterior embryotoxon Leukocytosis Gonadal dysgenesis Emotional lability Optic atrophy Gait disturbance Blindness Ichthyosis Secondary amenorrhea Axonal degeneration Malabsorption Gingival overgrowth Precocious puberty Personality changes Type I diabetes mellitus Diarrhea CNS hypomyelination Encephalopathy Developmental regression Myopathy Glomerulopathy Tremor Nephropathy Respiratory insufficiency Renal insufficiency Proteinuria Hip dysplasia Photophobia Hypertrichosis Abdominal distention Focal segmental glomerulosclerosis Hyporeflexia Bilateral sensorineural hearing impairment Nephrotic syndrome Type II diabetes mellitus Growth hormone deficiency Dysarthria Full cheeks Autism Intrauterine growth retardation Dyspnea Pulmonary embolism Hypergonadotropic hypogonadism Coma Pruritus Rhabdomyolysis Axonal loss Malignant hyperthermia Osteopenia Infertility Abnormality of peripheral nerve conduction Motor polyneuropathy Memory impairment Carious teeth Hypospadias Hemiparesis Talipes equinovarus Hepatomegaly Gynecomastia Growth abnormality Hirsutism Decreased testicular size Ambiguous genitalia Delayed skeletal maturation Small hand Microphthalmia Paresthesia Sleep apnea Stroke Myalgia Cerebral cortical atrophy Kyphoscoliosis Respiratory tract infection Dolichocephaly Neonatal hypotonia Hypermetropia Abnormality of the nervous system Fatigue Dysphagia Thin upper lip vermilion Iris hypopigmentation Respiratory failure Bilateral camptodactyly Neurological speech impairment Nyctalopia Abnormality of the liver Erythema Protruding ear Feeding difficulties in infancy Snoring EEG abnormality Stiff skin Cervical lymphadenopathy Jaundice Acidosis Gait ataxia Myoclonus Cerebellar hypoplasia Respiratory distress Elevated serum creatine phosphokinase Upper eyelid edema Areflexia Retroperitoneal fibrosis Arrhythmia Visual loss Seborrheic keratosis Visual impairment Short nose Dystonia Syndactyly Recurrent respiratory infections Prominent forehead Upslanted palpebral fissure Skeletal muscle atrophy Hypopigmentation of the skin Acromicria Skeletal muscle hypertrophy Aortic valve stenosis Increased body weight Generalized hypopigmentation Spontaneous abortion Scrotal hypoplasia Infantile muscular hypotonia Hyperinsulinemia Hypothermia Ocular albinism Large hands Glucose intolerance Albinism Chromosome breakage Decreased muscle mass Cor pulmonale Truncal obesity External genital hypoplasia Polyphagia Narrow nasal bridge Hypoplasia of the fovea Myeloid leukemia Impaired pain sensation Striae distensae Dilated cardiomyopathy Hypoventilation Acrocyanosis Oligomenorrhea Overweight Central hypotonia Bradycardia Insulin resistance Poor gross motor coordination Sepsis Genu valgum Arachnodactyly Almond-shaped palpebral fissure Hypopnea Short palm Narrow palm Downturned corners of mouth Short foot Hypoplastic labia minora Central adrenal insufficiency Tapered finger Sleep disturbance Abnormality of lipid metabolism Temperature instability Abdominal obesity Gastrointestinal hemorrhage Triangular mouth Esotropia Febrile seizures Disseminated intravascular coagulation Narrow forehead Erysipelas Frontal upsweep of hair Oligohydramnios Clitoral hypoplasia Decreased fetal movement Anteverted ears Cutaneous photosensitivity Poor fine motor coordination Hypopigmentation of hair Hyperkinesis Arthrogryposis multiplex congenita Gait imbalance Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Anterior hypopituitarism Aortic dissection Stroke-like episode Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Proximal tubulopathy Ileus Renal tubular dysfunction Facial diplegia Abnormality of the renal tubule Abnormality of visual evoked potentials Abnormality of immune system physiology Primary adrenal insufficiency Distal arthrogryposis Drowsiness Atopic dermatitis Hashimoto thyroiditis Neonatal hypoglycemia Cardiorespiratory arrest Xerostomia Heart block Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Hemianopia Episodic vomiting Hyperthyroidism Paralytic ileus Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Abnormal cochlea morphology Spotty hypopigmentation Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Paronychia Abnormal macular morphology Dysesthesia Gastroparesis Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Hemeralopia Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Abnormality of the cerebellar vermis Crohn's disease Thyroiditis Progressive sensorineural hearing impairment Ophthalmoplegia Cerebral visual impairment Status epilepticus Atrial fibrillation Involuntary movements Decreased body weight Anorexia Abnormality of retinal pigmentation Clonus Generalized-onset seizure Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Exercise intolerance Macular degeneration Pulmonary arterial hypertension Pigmentary retinopathy External ophthalmoplegia Postural instability Nausea and vomiting Confusion Vertigo Peripheral axonal neuropathy Lactic acidosis Nausea Muscle cramps Cerebral calcification Abnormal cerebellum morphology Generalized myoclonic seizures Sudden cardiac death Sensory impairment Migraine Increased serum lactate Pancreatitis Reduced tendon reflexes Vertebral fusion Bundle branch block Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Abnormality of neuronal migration Overlapping toe Aphasia Ophthalmoparesis Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Intestinal obstruction Hyponatremia Ragged-red muscle fibers Chronic kidney disease Ischemic stroke Hypopigmented skin patches Mutism Goiter Panniculitis Easy fatigability Atrioventricular block Abnormality of mitochondrial metabolism Cachexia Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Hemiplegia Aortic aneurysm Episcleritis Reduced factor XII activity Facial telangiectasia Motor axonal neuropathy Multicystic kidney dysplasia Open mouth Underdeveloped nasal alae Vesicoureteral reflux Aggressive behavior Absent speech Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Decreased serum estradiol Genu recurvatum Abnormality of the hand Myoglobinuria Decreased motor nerve conduction velocity Postural tremor Long eyelashes Split hand Intention tremor Interphalangeal joint contracture of finger Microcornea Sensory neuropathy Abnormal pyramidal sign Camptodactyly of finger Proximal muscle weakness Pes cavus Babinski sign Holoprosencephaly Dysdiadochokinesis Gonadal tissue inappropriate for external genitalia or chromosomal sex Velopharyngeal insufficiency Facial asymmetry Broad forehead Sparse hair Postnatal growth retardation Polyhydramnios Pectus excavatum Downslanted palpebral fissures Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Giant platelets Apathy Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Hearing abnormality Anal stenosis Submucous cleft hard palate Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Abnormality of the skeletal system Ovarian gonadoblastoma Triangular face Adrenocortical carcinoma Muscle stiffness Leukodystrophy Spastic gait Progressive neurologic deterioration Gliosis Progressive cerebellar ataxia Unsteady gait Abnormality of the cerebral white matter Distal muscle weakness Macrocephaly Spasticity Reduced amygdala volume Premature pubarche Adrenogenital syndrome Spastic paraparesis Abnormal spermatogenesis Congenital adrenal hyperplasia Abnormality of the ovary Astrocytoma Renal salt wasting Adrenal hyperplasia Lipoma Decreased fertility Clitoral hypertrophy Abnormality of the thorax Sarcoma Polycystic ovaries Recurrent urinary tract infections Carcinoma Paraparesis Leukoencephalopathy True hermaphroditism Glomerulosclerosis Anuria Streak ovary Low-grade fever Uterus didelphys Ambiguous genitalia, female Diffuse mesangial sclerosis Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Nephroblastoma Glomerulonephritis Abnormality of the genital system Encephalitis Congenital diaphragmatic hernia Stage 5 chronic kidney disease Pallor Decreased circulating progesterone Cessation of head growth Spastic hemiparesis Rapid neurologic deterioration Diffuse leukoencephalopathy Primary gonadal insufficiency Cerebral hypomyelination CNS demyelination Hyperventilation Progressive encephalopathy Premature ovarian insufficiency Bruising susceptibility Abnormal bleeding Myelofibrosis Cleft upper lip Aspiration Hyperpigmentation of the skin Telangiectasia Bronchiectasis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Mitral valve prolapse Overgrowth Recurrent fractures Flat face Lymphadenopathy Osteolysis Abnormality of the foot Pectus carinatum Retinopathy Camptodactyly Hepatosplenomegaly Pes planus Hyperkeratosis Severe short stature Pneumonia Alopecia Anteverted nares Frontal bossing Wide nasal bridge Type I truncus arteriosus Elbow flexion contracture Lipodystrophy Parathyroid hypoplasia Communicating hydrocephalus Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Varicose veins Stridor Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Hyperglycemia Parathyroid agenesis Decreased circulating parathyroid hormone level Dental malocclusion Arnold-Chiari type I malformation Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Abnormality of blood and blood-forming tissues Neurofibrosarcoma Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Cubitus valgus Myelodysplasia Patent foramen ovale Elevated alkaline phosphatase Pterygium Lymphedema Webbed neck Superior pectus carinatum Panuveitis Accommodative esotropia Short palpebral fissure Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Broad thumb Iris coloboma Juvenile myelomonocytic leukemia Astigmatism Microtia Short philtrum Craniosynostosis Cleft lip Telecanthus Hydronephrosis Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Prominent ear helix


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