Fever, and Bulbous nose

Diseases related with Fever and Bulbous nose

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

High match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Other less relevant matches:

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

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

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

High match FABRY DISEASE

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Top 5 symptoms//phenotypes associated to Fever and Bulbous nose

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears

Common Symptoms - More than 50% cases

Hypothyroidism

Uncommon Symptoms - Between 30% and 50% cases

Retrognathia Cleft palate Ventricular septal defect Clinodactyly of the 5th finger Atrial septal defect Behavioral abnormality Specific learning disability Micrognathia Muscular hypotonia Abnormal facial shape Bifid uvula Abnormality of the kidney Hydronephrosis Immunodeficiency Short chin Recurrent infections Congestive heart failure Short neck Scoliosis Abnormality of the dentition Patent ductus arteriosus Abnormality of the pinna Renal dysplasia Microtia Blepharophimosis Anemia Vomiting Ptosis Feeding difficulties Malar flattening Delayed speech and language development Aggressive behavior Abnormality of cardiovascular system morphology Depressivity Constipation Arrhythmia Hypoplasia of the corpus callosum Cataract Wide nasal bridge Depressed nasal bridge Hyperactivity Coarctation of aorta Obesity Proteinuria Bicuspid aortic valve Pain Umbilical hernia Arthritis Anxiety Feeding difficulties in infancy Sloping forehead Short palpebral fissure Purpura Multicystic kidney dysplasia Tetralogy of Fallot Long nose Motor delay Retinal vascular tortuosity Submucous cleft hard palate Prominent nose Facial asymmetry Thick vermilion border Flexion contracture Cryptorchidism Headache Short palm Agenesis of corpus callosum Respiratory insufficiency Autoimmunity Thick eyebrow Thin upper lip vermilion Corneal opacity Polymicrogyria Astigmatism Strabismus Thrombocytopenia Ventricular arrhythmia Renal insufficiency Diarrhea Growth delay Cardiomyopathy

Rare Symptoms - Less than 30% cases

Inguinal hernia Hypertension Intrauterine growth retardation Hypoplastic toenails Cerebellar atrophy Amenorrhea Renal agenesis Vesicoureteral reflux Chorea Hemolytic anemia Polycystic kidney dysplasia Platyspondyly Abnormal heart morphology Low posterior hairline Malabsorption Stage 5 chronic kidney disease Nephropathy Premature birth Nephrotic syndrome Fine hair Abnormal lung morphology Abnormal form of the vertebral bodies Heterotopia Hip dislocation Reduced bone mineral density Dementia Chronic kidney disease Glomerulosclerosis Emphysema Glomerulopathy Transient ischemic attack Stroke Hydrocephalus Developmental regression Osteopenia Absent speech Hyperlipidemia Neonatal hypotonia Primary amenorrhea Respiratory failure Impaired T cell function Duodenal stenosis Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Hypohidrosis Nausea and vomiting Hypertonia Midface retrusion High, narrow palate Vascular tortuosity Sensorineural hearing impairment Hyperkeratosis Perimembranous ventricular septal defect Dyspnea Abnormality of the nervous system Apnea Dolichocephaly Renal cyst Oligohydramnios Elbow flexion contracture Knee flexion contracture Fatigue Sacral dimple Large hands Diabetes insipidus Arachnoid cyst Right aortic arch Interrupted aortic arch Spina bifida Autoimmune hemolytic anemia Hypocalcemia Arnold-Chiari malformation Schizophrenia Abnormality of the hand Hepatic failure Nasal speech Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Ventriculomegaly Acne Inflammation of the large intestine Biventricular hypertrophy Graves disease Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Periorbital fullness Heat intolerance Prominent supraorbital ridges Hypoparathyroidism Meningocele Truncus arteriosus Lymphedema Myelomeningocele Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Vitiligo Sacral meningocele Narrow mouth Palpitations Hypertelorism Protruding ear Autistic behavior Triangular face Hypsarrhythmia Clinodactyly Sparse and thin eyebrow Absence seizures Bilateral single transverse palmar creases Broad forehead Gastroesophageal reflux Hypermetropia Intellectual disability, severe Ventricular tachycardia Renal hypoplasia Gait ataxia Sleep disturbance Prominent occiput Ataxia Pulmonic stenosis Short metacarpal Autism Syncope Tachycardia Short foot Small hand Open mouth Dental crowding Widely spaced teeth Abnormality of the foot Epicanthus Optic atrophy Anteverted nares Long philtrum Delayed skeletal maturation Severe short stature Abnormal heart valve morphology Coarse facial features Myopia Postnatal growth retardation Hyperkalemia Respiratory distress High pitched voice Loss of consciousness 2-3 toe syndactyly Short nose Failure to thrive Abnormality of the skeletal system EEG abnormality Brachydactyly Joint laxity Telangiectasia of the skin Glycosuria Tricuspid regurgitation Impaired vibratory sensation Clubbing Celiac disease Impotence Polyuria Anhidrosis Bundle branch block Coronary artery atherosclerosis Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Renal tubular acidosis Supraventricular tachycardia Wheezing Chronic obstructive pulmonary disease Gastrointestinal dysmotility Encephalopathy Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Angina pectoris Aortic root aneurysm Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Xerostomia Abnormal EKG Abnormality of lipid metabolism Heart murmur Aminoaciduria Personality changes Myalgia Edema Dilatation Hyperhidrosis Abdominal pain Mandibular prognathia Arthralgia Carcinoma Bifid first metacarpal Hypertrophic cardiomyopathy Skin rash Cough Prominent nasal bridge Papule Pruritus Peripheral neuropathy Cleft vertebral arch Delayed puberty Abnormality of calcium-phosphate metabolism Abnormally ossified vertebrae Abnormality of the intervertebral disk Hypoplasia of the frontal lobes Small anterior fontanelle Aplasia/hypoplasia of the femur Large iliac wings Loss of eyelashes Absent knee epiphyses Abnormality of the distal phalanx of finger Abnormality of the pubic bone Shoulder flexion contracture Abnormality of the tragus Bifid femur Bowed humerus Enlarged metaphyses Abnormality of the cerebral white matter Paresthesia Polydipsia Abnormal intestine morphology Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance T-wave inversion Aortic regurgitation Progressive hearing impairment Anorexia Corneal dystrophy Ischemic stroke Tinnitus Easy fatigability Atrioventricular block Brachycephaly Hemiplegia Bradycardia Left ventricular hypertrophy Vertigo Urinary incontinence Nausea Hematuria Muscle cramps Abdominal distention Chest pain Sudden cardiac death Hypotension Subcutaneous nodule Abnormality of the cardiovascular system Mitral valve prolapse Ventricular hypertrophy Thick lower lip vermilion Atrial fibrillation Myocardial infarction Mitral regurgitation Abnormal aortic valve morphology Short mandibular rami Miosis Elevated serum long-chain fatty acids Hepatic calcification Decreased plasma free carnitine Tapered toe Intracerebral periventricular calcifications Antenatal intracerebral hemorrhage Decreased plasma total carnitine Long-chain dicarboxylic aciduria Elevated long chain fatty acids Macrocephaly Gait disturbance Intellectual disability, mild Hyporeflexia Macrotia Deeply set eye Basal ganglia cysts Increased muscle lipid content Irritability Hypoketotic hypoglycemia Visual impairment Overfolded helix Cerebral hemorrhage Enlarged kidney Heart block Hypothermia Cystic renal dysplasia Nonketotic hypoglycemia Ureteral duplication Long toe Abnormality of nervous system morphology Dicarboxylic aciduria Increased total bilirubin Macrovesicular hepatic steatosis Intellectual disability, moderate Unsteady gait Narrow palate Delayed CNS myelination Poor eye contact Impaired pain sensation Palpebral edema Abnormality of the periventricular white matter Bruxism Concave nasal ridge Episodic vomiting Cellulitis Toenail dysplasia Cerebellar cortical atrophy Hyperorality Tongue thrusting Fulminant hepatic failure Hair-pulling Weak cry Recurrent upper respiratory tract infections Full cheeks Chronic diarrhea Dental malocclusion Hepatitis Broad-based gait Abnormality of the genital system Long eyelashes Nephrolithiasis Tall stature Recurrent skin infections Cerebral visual impairment Pointed chin Accelerated skeletal maturation Abnormality of the outer ear Increased intracranial pressure Poor head control Hyperammonemia Cardiomegaly Abnormal renal physiology Obstructive lung disease Nephrogenic diabetes insipidus Decreased glomerular filtration rate Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Impaired temperature sensation Limb pain Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Abnormality of temperature regulation Corneal crystals Mucosal telangiectasiae Supraventricular arrhythmia Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormality of the renal tubule Abnormal cornea morphology Dysesthesia Conjunctival telangiectasia Vascular skin abnormality Microalbuminuria Long clavicles Primary hypothyroidism Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Concentric hypertrophic cardiomyopathy Unexplained fevers Wide intermamillary distance Frontal bossing Elevated serum creatine phosphokinase Prominent forehead Acidosis High forehead Hypoglycemia Elevated hepatic transaminase Dilated cardiomyopathy Hepatomegaly Lethargy Hepatic steatosis Tapered finger Metabolic acidosis Coma Aciduria Hyperreflexia Cornea verticillata ST segment depression Left ventricular septal hypertrophy Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Tenesmus Abnormal glomerular filtration rate Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Central hypothyroidism Short humerus Aplastic clavicle Abnormal T cell morphology Abnormality of the cheek Conductive hearing impairment Muscle weakness Hypospadias Hernia Syndactyly Paralysis Toe syndactyly Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Encephalomalacia Neoplasm of the tongue Cellular immunodeficiency Lymphoproliferative disorder Villous atrophy Cerebral ischemia Precocious atherosclerosis Subvalvular aortic stenosis Dentinogenesis imperfecta Right ventricular cardiomyopathy Increased thyroid-stimulating hormone level Arteriosclerosis Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Shallow acetabular fossae Mental deterioration Congenital cataract Disproportionate short-trunk short stature Narrow palpebral fissure Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Polyhydramnios Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Joint hyperflexibility Smooth philtrum Dysdiadochokinesis Thin vermilion border Interphalangeal joint contracture of finger Holoprosencephaly Scrotal hypoplasia Anal atresia Bladder diverticulum Dysmetria Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Underdeveloped nasal alae Abnormal nasolacrimal system morphology Peripheral demyelination Adducted thumb Hypoplasia of teeth Psychosis Abnormality of the antihelix Stenosis of the external auditory canal Atrioventricular canal defect Hallucinations B-cell lymphoma Ovoid vertebral bodies Recurrent respiratory infections Pneumonia Gliosis Abnormal cerebellum morphology Neutropenia Cardiac arrest Abnormality of skin pigmentation Scapular winging Oligodontia Growth abnormality Short metatarsal Hypokalemia Myotonia Scarring Hyperlordosis Preauricular pit Prolonged QT interval Migraine Toe clinodactyly Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Prominent U wave Periodic hypokalemic paresis Clinodactyly of the 5th toe Delayed eruption of permanent teeth Agenesis of permanent teeth Persistence of primary teeth Periodic paralysis Scaphocephaly Hyperthyroidism Kyphosis Slender long bone Brain atrophy Short phalanx of finger Thoracic kyphosis Encephalitis Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency Inability to walk Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Delayed eruption of teeth Hypoplasia of the maxilla Lymphoma Hypoplasia of dental enamel Waddling gait Decreased testicular size Microdontia Decreased body weight Lumbar hyperlordosis Intellectual disability, profound Tetraparesis Coarse hair Abnormality of epiphysis morphology Lymphopenia Bone marrow hypocellularity Opacification of the corneal stroma Atherosclerosis Azoospermia Anal stenosis Hearing abnormality Tethered cord Dry skin Sparse eyelashes Muscle stiffness Short thumb Bowing of the long bones Pachygyria Abnormality of the metaphysis Sparse scalp hair Cerebellar vermis hypoplasia Status epilepticus Synophrys Limb undergrowth Delayed myelination Downturned corners of mouth Single transverse palmar crease Micromelia Wide mouth Proptosis Hypogonadism Polydactyly Glaucoma Focal-onset seizure Esotropia Micropenis Skeletal dysplasia Hypotrichosis Rigidity Muscular hypotonia of the trunk Highly arched eyebrow Sparse hair Small for gestational age Everted lower lip vermilion Lissencephaly Abnormality of the metacarpal bones Febrile seizures Thickened nuchal skin fold Broad distal phalanx of finger Abnormality of the upper urinary tract Thin eyebrow Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Hypoplastic ilia Short femur Long foot Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Severe intrauterine growth retardation Abnormality of the urinary system Cortical gyral simplification Preaxial polydactyly Elbow dislocation Rickets Multiple joint contractures Hydroureter Femoral bowing Partial agenesis of the corpus callosum Epileptic spasms Prolonged neonatal jaundice Disproportionate short stature Broad palm Osteomalacia Periodic hyperkalemic paralysis Hip contracture Osteoporosis Cerebellar hypoplasia Delusions Paranoia Neoplasm Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Finger clinodactyly Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Sandal gap Psychotic episodes Infantile muscular hypotonia Velopharyngeal insufficiency Giant platelets Tented upper lip vermilion Focal impaired awareness seizure Low anterior hairline Hemifacial hypoplasia Pierre-Robin sequence Abnormality of lower lip Echolalia Abnormality of the endocrine system Pulmonary artery atresia Paroxysmal bursts of laughter Macrodontia Language impairment Short attention span Polyphagia Cupped ear Platybasia Mood swings Self-injurious behavior Generalized hirsutism Microphthalmia Alopecia Perisylvian polymicrogyria Cerebral atrophy Hip dysplasia Downslanted palpebral fissures Spasticity Epileptic encephalopathy Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Hypoplasia of penis Abnormality of the thymus Abnormality of the middle ear Alcoholism Stereotypy Iris coloboma Telecanthus Cleft lip Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Generalized tonic-clonic seizures Broad thumb Femoral hernia Amblyopia Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Hypoplasia of the thymus Recurrent pyelonephritis


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