Fever, and Synophrys

Diseases related with Fever and Synophrys

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

Top matches:

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

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

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Medium match PORPHYRIA VARIEGATA

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Low 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

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

Low 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

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Low match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Synophrys

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intellectual disability Microcephaly Anemia Hypertrichosis Vomiting Pneumonia Clinodactyly Muscular hypotonia Ptosis Hypotrichosis Malabsorption Recurrent respiratory infections Sepsis Downturned corners of mouth Pruritus Ectopic kidney Aspiration Ichthyosis Dry skin Hearing impairment Sparse eyelashes Proteinuria Nystagmus Severe short stature Diarrhea Sensorineural hearing impairment Hypertension Wide nasal bridge Sparse scalp hair Nephrotic syndrome Respiratory tract infection Abnormality of the pinna Hypothyroidism Delayed skeletal maturation Constipation Hepatomegaly Brachycephaly Intellectual disability, severe Feeding difficulties Clinodactyly of the 5th finger Gastroesophageal reflux Alopecia Thin upper lip vermilion Autism Generalized hypotonia

Rare Symptoms - Less than 30% cases

Scaling skin Hallucinations Skin rash Tapered finger Generalized lymphadenopathy Splenomegaly Abnormal blistering of the skin Psychosis Visual hallucinations Hirsutism Edema Ventriculomegaly Cleft upper lip Vertigo Inflammatory abnormality of the skin Conductive hearing impairment Hypopigmented skin patches Chronic kidney disease Prominent forehead Hashimoto thyroiditis Hyperreflexia Thyroiditis Hyperhidrosis Narrow mouth Fragile skin Atopic dermatitis Camptodactyly Hypertrophic cardiomyopathy Proptosis Erythroderma Nausea Depressivity Blue sclerae Apnea Abnormality of the kidney Epicanthus Cerebellar hypoplasia Cerebral cortical atrophy Generalized myoclonic seizures Round face Hepatosplenomegaly Polyneuropathy Dyspnea Anxiety Hypogonadism Diabetes mellitus Muscle weakness Pain Peripheral neuropathy Lymphadenopathy Focal segmental glomerulosclerosis Sparse and thin eyebrow Psoriasiform dermatitis Abdominal pain Increased body weight Elbow flexion contracture Fine hair Leukocytosis Confusion Hypoplastic nipples Gastroparesis Type I diabetes mellitus Aspiration pneumonia Gynecomastia Gingival overgrowth Nausea and vomiting Bilateral sensorineural hearing impairment Amenorrhea Delayed puberty Motor polyneuropathy Abnormal heart morphology Renal insufficiency Encephalopathy Hyperactivity Gait ataxia Retrognathia Weight loss EEG abnormality Aggressive behavior Feeding difficulties in infancy Protruding ear Autistic behavior Xerostomia Self-injurious behavior Neoplasm Astigmatism Thick eyebrow Small hand Everted lower lip vermilion Highly arched eyebrow Widely spaced teeth Respiratory distress Sleep disturbance Erythema Generalized hirsutism Low anterior hairline Hip dysplasia Behavioral abnormality Postnatal growth retardation Frontal bossing Thrombocytopenia Atrial septal defect Ataxia Cardiomyopathy Hydrocephalus Short neck Myopia Anteverted nares Micrognathia Headache Hypertonia Ventricular septal defect Abnormality of the skeletal system Optic atrophy Strabismus Cryptorchidism Visual impairment Abnormal facial shape Motor delay Depressed nasal bridge Low-set ears Abnormality of the dentition High palate Delayed speech and language development Hernia Abnormality of neuronal migration Aphasia Bifid scrotum Rhabdomyolysis Mask-like facies Neurological speech impairment Abnormality of the liver Stroke Overlapping toe Hemiplegia/hemiparesis Bundle branch block Attention deficit hyperactivity disorder Adrenal insufficiency Nyctalopia Visual field defect Vestibular dysfunction Acidosis Myoclonus Basal ganglia calcification Osteoporosis Glomerulopathy Progressive sensorineural hearing impairment Hyperthyroidism Aplasia/Hypoplasia of the cerebellum Jaundice Dysphasia Vertebral fusion Multiple lipomas Photophobia Myalgia Prolonged QT interval Mental deterioration Developmental regression Hyperkalemia Dilated cardiomyopathy Bilateral ptosis Intestinal obstruction Nephropathy EMG abnormality Truncal ataxia Cardiac arrest Lactic acidosis Clonus Cerebral visual impairment Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Decreased body weight Polymicrogyria Involuntary movements Hemiparesis Atrial fibrillation Coma Peripheral axonal neuropathy Abnormality of the cardiovascular system Sensory impairment Increased serum lactate Memory impairment Sudden cardiac death Cerebral calcification Pigmentary retinopathy Generalized-onset seizure Ventricular hypertrophy Abnormal cerebellum morphology Type II diabetes mellitus Muscle cramps Pulmonary arterial hypertension Status epilepticus Postural instability Hypogonadotrophic hypogonadism Paresthesia Personality changes Ophthalmoplegia Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Generalized tonic-clonic seizures Hemiplegia Migraine Lethargy Hypercalciuria Decreased nerve conduction velocity Arthrogryposis multiplex congenita Cachexia Atrioventricular block Growth abnormality Easy fatigability Dysmetria Reduced tendon reflexes Exercise intolerance Anal atresia Purpura Macular degeneration Pancreatitis External ophthalmoplegia Ragged-red muscle fibers Congenital cataract Ischemic stroke Mutism Carious teeth Schizophrenia Goiter Hyperkinesis Specific learning disability Leber optic atrophy Abnormality of immune system physiology Emphysema Acanthosis nigricans Abnormal intestine morphology Recurrent skin infections Urticaria Brittle hair Intracranial hemorrhage Malnutrition Abnormality of the hair Abnormality of the musculature Congenital ichthyosiform erythroderma Irregular hyperpigmentation Severe postnatal growth retardation Hypothermia Villous atrophy Aminoaciduria Eczema Allergy Onycholysis Recurrent pneumonia Hypoalbuminemia Glomerulosclerosis Neonatal respiratory distress Interstitial pulmonary abnormality Tubular atrophy Decreased glomerular filtration rate Dehydration Crossed fused renal ectopia Respiratory acidosis Junctional split Recurrent infections Hydronephrosis Asthma Decreased antibody level in blood Verrucae Congenital nonbullous ichthyosiform erythroderma Cyanosis Hypoplasia of the thymus Eosinophilia Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Severe combined immunodeficiency Hypoproteinemia Recurrent viral infections Cellular immunodeficiency Shock Metaphyseal chondrodysplasia B lymphocytopenia Recurrent fungal infections Protracted diarrhea Abnormal lymphocyte morphology Desquamation of skin soon after birth Disproportionate short-limb short stature Recurrent bacterial infections Trichorrhexis nodosa Brittle scalp hair Allergic rhinitis Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Hypernatremic dehydration IgE-mediated food allergy Short toe Immunodeficiency Autoimmunity Papule Lymphoma Abnormality of the metaphysis Thickened skin Chronic diarrhea Abnormal lung morphology Narrow chest Primary adrenal insufficiency Seborrheic dermatitis Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Left ventricular failure Tubulointerstitial nephritis Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Increased CSF lactate Renal tubular dysfunction Episodic vomiting Heart block Pulmonary embolism Distal arthrogryposis Drowsiness Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Hypoparathyroidism Aortic dissection Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Abnormality of the renal tubule Dysesthesia Nail dystrophy 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 Macrotia Edema of the dorsum of hands Paronychia Psychomotor deterioration Auditory hallucinations Muscle fiber atrophy Writer's cramp Persistence of primary teeth Rod-cone dystrophy 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 Dementia Elevated erythrocyte sedimentation rate Elevated serum creatine phosphokinase Pyloric stenosis Ectrodactyly Oligodactyly Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Short metatarsal Hiatus hernia Deep philtrum Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Torticollis Spontaneous abortion Long eyelashes Recurrent urinary tract infections Choanal atresia Low posterior hairline Renal hypoplasia High myopia Congenital diaphragmatic hernia Poor appetite Esophagitis Otitis media Esophageal stenosis Congenital hypothyroidism Narrow forehead Obesity Hypoplasia of the corpus callosum Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Hypoplastic male external genitalia Hypoplastic labia majora Curly eyelashes Absent hand Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Microdontia Webbed neck Malignant hyperthermia Epileptic encephalopathy Polyphagia Cupped ear Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Sandal gap Absence seizures Short chin Finger clinodactyly Stereotypy Dental crowding Open mouth Hypoplasia of penis Febrile seizures Macrodontia Focal-onset seizure Esotropia Prominent nose Short foot Short palm Bulbous nose Facial asymmetry Hypermetropia Broad forehead Microtia Wide mouth Coarse facial features Malar flattening Short nose Short attention span Hemifacial hypoplasia Vesicoureteral reflux Craniosynostosis Triangular face Renal cyst Microcornea Delayed eruption of teeth Single transverse palmar crease High, narrow palate Pulmonary hypoplasia Thin vermilion border Micromelia Toe syndactyly Pulmonic stenosis Hip dislocation Small for gestational age Prominent nasal bridge Pallor Paroxysmal bursts of laughter Telecanthus Hypoglycemia Mandibular prognathia Glaucoma Inguinal hernia Hypospadias Syndactyly Long philtrum Talipes equinovarus Macrocephaly Intrauterine growth retardation Cleft palate Scoliosis Abnormality of lower lip Underdeveloped supraorbital ridges Congenital stationary night blindness Hyporeflexia Facial telangiectasia Ectodermal dysplasia Hypodontia Thick vermilion border Sparse hair Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Myelofibrosis Absent eyebrow 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 Communicating hydrocephalus Varicose veins Hypohidrosis Anhidrosis Enlarged kidney Tremor Areflexia Arrhythmia Visual loss Cerebral atrophy Kyphosis Dystonia Congestive heart failure Cerebellar atrophy Myopathy Blindness Respiratory insufficiency Dysphagia Fatigue Gait disturbance Skeletal muscle atrophy Agenesis of permanent teeth Dysarthria Cognitive impairment Cataract Abnormal number of teeth Abnormality of the forehead Periorbital wrinkles Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Conical tooth Sparse lateral eyebrow Anodontia Rhinitis Keratoconjunctivitis sicca Abnormal eyebrow morphology Exocrine pancreatic insufficiency Abnormality of brain morphology Hepatocellular carcinoma Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Pes planus Micropenis Hyperkeratosis Posteriorly rotated ears Patent ductus arteriosus Intellectual disability, mild Brachydactyly Flexion contracture Porphyrinuria Premature adrenarche Dark urine Neoplasm of the liver Insomnia Pectus carinatum Restlessness Milia Agitation Thin skin Cutaneous photosensitivity Tetraplegia Hypopigmentation of the skin Tachycardia Scarring Paralysis Carcinoma Multifocal cerebral white matter abnormalities Large fleshy ears Horizontal eyebrow Retinopathy Abnormality of the foot Severe sensorineural hearing impairment Hypergonadotropic hypogonadism Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Increased antibody level in blood Hallux valgus Hyperglycemia Stridor Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Hyperpigmentation of the skin Flat face Telangiectasia Bronchiectasis Primary amenorrhea Hypertriglyceridemia Epistaxis Epidermal acanthosis Cardiomegaly Mitral valve prolapse Overgrowth Decreased testicular size Wide intermamillary distance Growth hormone deficiency Full cheeks Recurrent fractures Severe B lymphocytopenia


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