Failure to thrive, and Vertigo

Diseases related with Failure to thrive and Vertigo

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

Top matches:

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY Is also known as xy sex reversal-adrenal failure|p450scc deficiency

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Talipes equinovarus
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Other less relevant matches:

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

High 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

Autosomal dominant beta 2-microglobulinic amyloidosis is a form of amyloidosis (see this term), characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin (D76N variant β2M) leading to progressive gastrointestinal dysfunction, Sjögren syndrome (see this term) and autonomic neuropathy.

VARIANT ABETA2M AMYLOIDOSIS Is also known as autosomal dominant beta2-microglobulinic amyloidosis

Related symptoms:

  • Constipation
  • Weight loss
  • Malabsorption
  • Vertigo
  • Gastrointestinal hemorrhage


SOURCES: ORPHANET MENDELIAN

More info about VARIANT ABETA2M AMYLOIDOSIS

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Top 5 symptoms//phenotypes associated to Failure to thrive and Vertigo

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Vertigo. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Ataxia Fatigue Cryptorchidism Pain Weight loss Dehydration Hypertelorism Microcephaly Intellectual disability Diarrhea Short stature Generalized hypotonia Hyperhidrosis Anemia Hepatomegaly Neoplasm Abdominal pain Feeding difficulties Constipation Hypertension Abnormal facial shape Hypospadias Delayed skeletal maturation Acidosis Delayed puberty Postnatal growth retardation Cardiomyopathy Nausea Cataract Hypertrophic cardiomyopathy Scoliosis Paresthesia Erythema Cerebral ischemia Migraine Renal insufficiency Hyperkinesis Stroke Ptosis Macrocephaly Hearing impairment Respiratory distress Congestive heart failure Hernia Gastrointestinal hemorrhage Nystagmus

Rare Symptoms - Less than 30% cases

Dementia Hyperreflexia Myopathy Dystonia Gastroparesis Encephalopathy Hypoglycemia Prominent forehead Intrauterine growth retardation Feeding difficulties in infancy Developmental regression Irritability Respiratory tract infection Neurological speech impairment Myelodysplasia Abnormality of the urinary system Visual impairment Pruritus High palate Ectopic kidney Rhabdomyolysis Episodic fever Transient ischemic attack Cleft palate Xerostomia Acute myeloid leukemia Muscular hypotonia Dysphagia Micrognathia Cognitive impairment Motor delay Tremor Malabsorption Gait disturbance Hypopigmented skin patches Visual field defect Coma Long eyelashes Pulmonary arterial hypertension Pneumonia Severe short stature Rod-cone dystrophy Myalgia Hypogonadism Pallor Diabetes mellitus Nyctalopia Toe syndactyly Clinodactyly of the 5th finger Hip dislocation Small for gestational age Intestinal obstruction Proptosis Hypothyroidism Sepsis Purpura Abnormality of the liver Nephrotic syndrome Depressivity Prolonged QT interval Abnormal cerebellum morphology Choanal atresia Abnormality of the skeletal system Aciduria Type I diabetes mellitus Exercise intolerance Hemiplegia Opisthotonus Recurrent urinary tract infections Dysarthria Ventriculomegaly Blindness Astigmatism Proteinuria Hydrocephalus Atrial septal defect Thrombocytopenia Posterior subcapsular cataract Abnormal heart morphology Anal atresia Frontal bossing Splenomegaly Strabismus Hypertonia Sensorineural hearing impairment Paralysis Anxiety Osteoporosis Arrhythmia Muscle weakness Adrenal insufficiency Renal salt wasting Hyponatremia Reduced bone mineral density Abnormality of the dentition Hyperkalemia Hirsutism Short neck Hypotension Hypovolemia Optic atrophy Spontaneous abortion Increased circulating renin level Lethargy Talipes equinovarus Hypertrichosis Nausea and vomiting Arthralgia Confusion Hypokalemia Cyanosis Cardiac arrest Neonatal hypoglycemia Cough Autism Telangiectasia Carcinoma Abnormality of the pinna Gastroesophageal reflux Jaundice Umbilical hernia Primary adrenal insufficiency Hypercalciuria Dyspnea Muscle cramps Postural instability Clubbing Nephropathy Chest pain Tapered finger Highly arched eyebrow Single transverse palmar crease Sleep disturbance Photophobia Otitis media Gait ataxia Delayed eruption of teeth Microcornea Renal cyst Triangular face Webbed neck Vesicoureteral reflux EEG abnormality Poor appetite Apnea Generalized tonic-clonic seizures Carious teeth Camptodactyly Autistic behavior Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Craniosynostosis Prominent nasal bridge Synophrys Pulmonic stenosis Micromelia Small hand Cleft upper lip Thin vermilion border Thick eyebrow Pulmonary hypoplasia Myoclonus Dilated cardiomyopathy Downturned corners of mouth High, narrow palate Attention deficit hyperactivity disorder Protruding ear Mental deterioration Cerebral cortical atrophy Microdontia Cerebellar hypoplasia Tricuspid regurgitation Phocomelia Limited elbow extension Supernumerary ribs 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Proximal placement of thumb Hand oligodactyly Self-injurious behavior Pyloric stenosis Short metatarsal Absent hand Deep philtrum Incoordination Abnormality of digit Perimembranous ventricular septal defect Relative macrocephaly Optic nerve coloboma Aspiration pneumonia Ectrodactyly Oligodactyly Esophagitis Hypoplastic labia majora Abnormality of the gastrointestinal tract Hypoplastic nipples Short sternum Recurrent hypoglycemia Volvulus Panhypopituitarism Dislocated radial head Weak cry Peters anomaly Hypoplasia of the radius Widely spaced teeth Elevated serum creatine phosphokinase Hiatus hernia Dysplastic tricuspid valve Peripheral neuropathy Blue sclerae High myopia Skeletal muscle atrophy Congenital diaphragmatic hernia Respiratory insufficiency Renal hypoplasia Cerebellar atrophy Kyphosis Cerebral atrophy Visual loss Areflexia Hyporeflexia Hypoplastic radial head Abnormality of the umbilicus Curly eyelashes Low anterior hairline Torticollis Hypoplastic male external genitalia Elbow flexion contracture Increased body weight Esophageal stenosis Hypertropia Aspiration Reduced renal corticomedullary differentiation Left-to-right shunt Projectile vomiting Duplication of internal organs Low posterior hairline Malrotation of colon Otitis media with effusion Thick upper lip vermilion Macular degeneration Dysmetria Dysesthesia Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Psychomotor deterioration Speech apraxia Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Auditory hallucinations Retinal pigment epithelial atrophy Left ventricular failure Renal Fanconi syndrome Renal tubular dysfunction Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Tubulointerstitial nephritis Seborrheic dermatitis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Abnormal nerve conduction velocity Tubulointerstitial abnormality Vitiligo Orthostatic hypotension due to autonomic dysfunction Chronic diarrhea Abnormal autonomic nervous system physiology Bowel incontinence Keratoconjunctivitis sicca Chronic constipation Gastrointestinal dysmotility Intermittent diarrhea Chronic axonal neuropathy Morphological abnormality of the inner ear Autonomic bladder dysfunction Abnormal bleeding Syncope Venous thrombosis Thrombocytosis Peripheral arterial stenosis Arterial thrombosis Prominent ear helix Morphological abnormality of the vestibule of the inner ear Psychotic episodes Edema of the dorsum of hands Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Cochlear malformation Bilateral intracranial calcifications Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Heart block Abnormality of visual evoked potentials Ichthyosis Abnormality of retinal pigmentation Atrial fibrillation Hemiparesis Involuntary movements Decreased body weight Left ventricular hypertrophy Anorexia Gingival overgrowth Hallucinations Psychosis Cerebral visual impairment Clonus Truncal ataxia EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Pancreatitis Ventricular hypertrophy Status epilepticus Reduced tendon reflexes Increased serum lactate Peripheral axonal neuropathy Lactic acidosis Polymicrogyria Polyneuropathy Generalized myoclonic seizures Sudden cardiac death Sensory impairment Memory impairment Type II diabetes mellitus Hip dysplasia Specific learning disability Amenorrhea Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment External ophthalmoplegia Ragged-red muscle fibers Hashimoto thyroiditis Glomerulopathy Bundle branch block Aphasia Vestibular dysfunction Dysphasia Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Basal ganglia calcification Abnormality of neuronal migration Hyperthyroidism Thyroiditis Abnormality of immune system physiology Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Overlapping toe Focal segmental glomerulosclerosis Ischemic stroke Cachexia Mutism Schizophrenia Goiter Easy fatigability Growth abnormality Chronic kidney disease Atrioventricular block Decreased nerve conduction velocity Hemiplegia/hemiparesis Bilateral ptosis Aortic aneurysm Abnormality of mitochondrial metabolism Ophthalmoparesis Personality changes Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Telecanthus Hydroureter Aggressive behavior Gliosis Abnormality of the cerebral white matter Abnormality of eye movement Abnormality of movement Inability to walk Dyskinesia Metabolic acidosis Delayed myelination Dilatation Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Choreoathetosis Large fontanelles Joint dislocation Cerebral palsy Rigidity Edema Encephalitis Hypocalciuria Chondrocalcinosis Enuresis Tetany Metabolic alkalosis Periodic paralysis Pollakisuria Hypokalemic alkalosis Spasticity Hypokalemic metabolic alkalosis Nocturia Renal potassium wasting Hypochloremia Renal magnesium wasting Salt craving Leukoencephalopathy Intracranial hemorrhage Hypomagnesemia Lymphadenopathy Flexion contracture Hepatosplenomegaly Arthritis Skin rash Papule Infertility Retinal dystrophy Ketonemia Abdominal distention Limitation of joint mobility Eczema Optic disc pallor Recurrent pneumonia Vasculitis Subdural hemorrhage Symmetrical progressive peripheral demyelination Spastic diplegia Dilation of lateral ventricles Malnutrition Bulbar palsy Malignant hyperthermia Generalized dystonia Ketonuria Abnormality of the retinal vasculature Decreased plasma carnitine Macrocephaly at birth Fasting hypoglycemia Acute encephalopathy Infantile encephalopathy Retinal hemorrhage Glutaric aciduria Glutaric acidemia Alkalosis Hyperventilation Urticaria Premature birth Duodenal adenocarcinoma Adenocarcinoma of the colon Hepatic vascular malformations Agenesis of corpus callosum Respiratory failure Talipes Decreased testicular size Intussusception Hyperpigmentation of the skin Gynecomastia Clitoral hypertrophy Bilateral cryptorchidism Bilateral talipes equinovarus Decreased fertility Multiple gastric polyps Melena Male pseudohermaphroditism Polycythemia Epistaxis Diplopia Hypoalbuminemia Portal hypertension Colon cancer Hamartoma Hemoptysis Hematemesis Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Generalized hyperpigmentation Adrenal hypoplasia Blurred vision Tachycardia Abnormality of prenatal development or birth Abnormality of the Leydig cells Low maternal serum estriol Midshaft hypospadias Abnormal urine potassium concentration Induced vaginal delivery Generalized muscle weakness Decreased circulating androgen level Palpitations Inflammatory abnormality of the skin Ventricular tachycardia Ventricular arrhythmia Polydipsia Polyuria Generalized bronze hyperpigmentation Abnormality of cholesterol metabolism Hyperaldosteronism Abnormal vagina morphology Adrenal hyperplasia Sex reversal Decreased circulating cortisol level Elevated circulating follicle stimulating hormone level Absence of secondary sex characteristics Aplasia of the uterus Elevated circulating luteinizing hormone level Abnormal sex determination Decreased circulating aldosterone level Ambiguous genitalia, male Urogenital sinus anomaly Increased circulating ACTH level Adrenocorticotropic hormone excess Female external genitalia in individual with 46,XY karyotype Hypernatriuria Conjunctivitis Apathy Conductive hearing impairment Abnormality of nervous system morphology Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Primary hypothyroidism Acute monocytic leukemia Duodenal stenosis Duplicated collecting system Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Clubbing of toes Abnormality of the ulna Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology Arteriovenous malformation Bicornuate uterus B-cell lymphoma Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Partial duplication of thumb phalanx Decreased fertility in males Abnormality of blood and blood-forming tissues Inguinal hernia Anteverted nares Intellectual disability, severe Behavioral abnormality Long philtrum Syndactyly Clinodactyly Brachycephaly Myopia Hyperactivity Glaucoma Narrow mouth Mandibular prognathia Retrognathia Thin upper lip vermilion Ventricular septal defect Wide nasal bridge Chromosomal breakage induced by crosslinking agents Anemic pallor Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Deficient excision of UV-induced pyrimidine dimers in DNA Depressed nasal bridge Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Low-set ears Delayed speech and language development Absent radius Multiple cafe-au-lait spots Leukocytosis Abnormality of cardiovascular system morphology Optic neuritis Cervical lymphadenopathy Serositis Pharyngitis Epicanthus Microphthalmia Patent ductus arteriosus Erysipelas Upslanted palpebral fissure Pes planus Abnormality of the eye Abnormality of the kidney Abnormal cardiac septum morphology Leukemia Neutrophilia Porokeratosis Dolichocephaly Peripheral visual field loss Hypermelanotic macule Elevated erythrocyte sedimentation rate Colitis Amyloidosis Subcapsular cataract Uveitis Poor coordination Neuritis Acrocyanosis Large forehead Peritonitis Recurrent aphthous stomatitis Chills Increased IgA level Finger syndactyly Abnormality of the foot Myeloid leukemia Abnormality of vision Bone marrow hypocellularity Horseshoe kidney Leukopenia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Hyperinsulinemia Spina bifida Triphalangeal thumb Tracheoesophageal fistula Glucose intolerance Hypoplasia of the ulna Squamous cell carcinoma Absent thumb Hypergonadotropic hypogonadism Abnormal vertebral morphology Facial asymmetry Tetralogy of Fallot Abnormality of skin pigmentation Bruising susceptibility Neutropenia Hypopigmentation of the skin Lymphoma Renal agenesis Sloping forehead Insulin resistance Oligohydramnios Pancytopenia Short palpebral fissure Abnormality of the genital system Aganglionic megacolon Cafe-au-lait spot Short thumb Chronic myelogenous leukemia


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