Fever, and Spina bifida

Diseases related with Fever and Spina bifida

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

Top matches:

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Other less relevant matches:

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

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

Low 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

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Low match NEUROBLASTOMA

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

Top 5 symptoms//phenotypes associated to Fever and Spina bifida

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Failure to thrive Flexion contracture Abnormal facial shape Ataxia Seizures Hypertelorism Generalized hypotonia Hearing impairment Scoliosis High palate Hypertonia Strabismus Anemia Inguinal hernia Meningocele Muscular hypotonia Nystagmus Hydrocephalus Ptosis Renal agenesis Abnormal heart morphology Epicanthus Abnormality of cardiovascular system morphology Patent ductus arteriosus Cerebellar atrophy Posteriorly rotated ears Atrial septal defect Hernia Thrombocytopenia Cognitive impairment Renal dysplasia Hyperreflexia Gait disturbance Arthritis Tremor Short neck Hypothyroidism Blepharophimosis Low-set ears Duodenal stenosis Tetralogy of Fallot Rheumatoid arthritis Nasal speech Abnormality of the kidney Neoplasm Cryptorchidism Umbilical hernia Growth delay

Rare Symptoms - Less than 30% cases

Absent speech Retrognathia Autoimmunity Abnormality of the pinna Anal atresia Dysmetria Intellectual disability, severe Bulbous nose Cerebellar vermis hypoplasia Hypospadias Conductive hearing impairment Renal hypoplasia/aplasia Partial agenesis of the corpus callosum Cataract Ventriculomegaly Abnormal cerebellum morphology Toe syndactyly Cleft lip Abnormality of the nervous system Bifid uvula Obesity Myoclonus Delayed speech and language development Ventricular septal defect Hypoplasia of the corpus callosum Behavioral abnormality Immunodeficiency Agenesis of corpus callosum Recurrent infections Hemolytic anemia Psoriasiform dermatitis Chorea Arteria lusoria Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Cafe-au-lait spot Cranial nerve paralysis Right aortic arch with mirror image branching Sacral meningocele Microphthalmia Sloping forehead Generalized tonic-clonic seizures Astigmatism Short palpebral fissure Abnormality of the foot Irritability Weight loss Hepatomegaly Juvenile rheumatoid arthritis Myelomeningocele Specific learning disability Dysdiadochokinesis Amenorrhea Peripheral demyelination Low posterior hairline Primary amenorrhea Hypocalcemia Purpura Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Cholelithiasis Delusions Truncus arteriosus Unilateral renal agenesis Acne Inflammation of the large intestine Autoimmune hemolytic anemia Axonal loss Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Hearing abnormality Frontal bossing Respiratory distress Irregular hyperpigmentation Abnormality of the eye Dysarthria Diarrhea Headache Depressivity Hip dislocation Psychosis Anxiety Small for gestational age Hypopigmented skin patches Postnatal growth retardation Pterygium Aciduria Telecanthus Narrow mouth Vertigo Malignant hyperthermia Hallucinations Muscle weakness Abnormality of vision Hypoplasia of the brainstem Underdeveloped nasal alae Intrauterine growth retardation Tetraparesis Frequent falls Limb ataxia Pes cavus Sensorimotor neuropathy Reduced bone mineral density Paraparesis Language impairment Incoordination Absent thumb Azoospermia Leukopenia Toe walking Decreased motor nerve conduction velocity Aphasia Axonal degeneration Abnormality of the urinary system Difficulty walking Glucose intolerance Lower limb muscle weakness Tracheoesophageal fistula Distal sensory impairment Distal amyotrophy Falls Hypoplasia of the ulna Peripheral axonal neuropathy Sensory neuropathy Lower limb hyperreflexia Distal muscle weakness Myelodysplasia Limb muscle weakness Squamous cell carcinoma Abnormality of the cerebral white matter Hyperinsulinemia Ectopic kidney Hydroureter Intention tremor Triphalangeal thumb Bone marrow hypocellularity Type I diabetes mellitus Peripheral axonal degeneration Bruising susceptibility Abnormality of skin pigmentation Pseudobulbar paralysis Facial asymmetry Abnormal nerve conduction velocity Dolichocephaly Finger syndactyly Leukemia Abnormal cardiac septum morphology Abnormality of the liver Hypertrophic cardiomyopathy Hypopigmentation of the skin Carcinoma Pes planus Proptosis Distal upper limb amyotrophy Diabetes mellitus Upslanted palpebral fissure Hypogonadism Severe short stature Clinodactyly of the 5th finger Renal insufficiency Congestive heart failure Neutropenia Abnormality of peripheral nerve conduction Horseshoe kidney Hand tremor Pathologic fracture Decreased number of peripheral myelinated nerve fibers Impaired pain sensation Hyporeflexia Onion bulb formation Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Hyperventilation Upper limb undergrowth Short thumb Telangiectasia Absent Achilles reflex Recurrent urinary tract infections Distal lower limb amyotrophy Excessive daytime somnolence Aganglionic megacolon Abnormality of the genital system Achilles tendon contracture Choanal atresia Pancytopenia Oligohydramnios Spinocerebellar tract degeneration Lymphoma Babinski sign Motor delay Areflexia Abnormal carotid artery morphology Feeding difficulties Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Abdominal pain Deficient excision of UV-induced pyrimidine dimers in DNA Bone pain Prolonged G2 phase of cell cycle Abnormality of the thorax Hypertension Neurofibromas Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Optic atrophy Encephalopathy Low-grade fever Lactic acidosis Dilation of lateral ventricles Decreased skull ossification Enlarged cisterna magna Hypoplasia of the fovea Limb hypertonia Lissencephaly Progressive microcephaly Decreased fetal movement Limitation of joint mobility Metabolic acidosis Severe global developmental delay Cerebellar hypoplasia Organic aciduria Severe lactic acidosis Muscular hypotonia of the trunk Osteopenia Congenital microcephaly Acidosis Spinal dysraphism Osteoporosis Temperature instability Small anterior fontanelle Pain Aplasia/Hypoplasia of the iris Meckel diverticulum Kyphosis Abnormality of blood and blood-forming tissues Neoplasm of the nervous system Horner syndrome Ganglioneuroblastoma Adrenal calcification External ear malformation Aplasia/Hypoplasia of the radius Opsoclonus Abdominal mass Elevated urinary dopamine Absent radius Elevated urinary catecholamines Paraganglioma Elevated urinary homovanillic acid Acute myeloid leukemia Multiple cafe-au-lait spots Elevated urinary vanillylmandelic acid Sensorineural hearing impairment Cleft soft palate Peripheral neuropathy Skeletal muscle atrophy Dysphagia Myeloid leukemia Ganglioneuroma Skin nodule Duplicated collecting system Acute monocytic leukemia Primary hypothyroidism Abnormality of nervous system morphology Neuroblastoma Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Spinal cord compression Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Anemic pallor Submucous cleft hard palate Abnormality of the skeletal system Unsteady gait Encephalitis Aminoaciduria Diplopia Chronic diarrhea Inflammatory abnormality of the skin Cutaneous photosensitivity Abnormal blistering of the skin Migraine Hepatic steatosis Cirrhosis Confusion Insomnia Malabsorption Skin rash EEG abnormality Photophobia Gastroesophageal reflux Gait ataxia Spasticity Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Emotional lability Gingivitis Abnormal auditory evoked potentials Syndactyly Oral cleft Cleft upper lip Prominent nasal bridge Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Micropenis Polydactyly Clinodactyly Dilatation Brachydactyly Bruxism Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Methylmalonic aciduria Episodic ataxia Ulnar deviation of the hand or of fingers of the hand Flexion contracture of toe Postaxial polydactyly Cystic hygroma Short nose Myopathy Talipes equinovarus Wide nasal bridge Abnormal cervical curvature Amyoplasia Hypoplastic heart Multiple pterygia Fetal akinesia sequence Thin ribs Vertebral fusion Malar flattening Short finger Akinesia Increased susceptibility to fractures Joint dislocation Lymphedema Depressed nasal ridge Congenital diaphragmatic hernia Pulmonary hypoplasia Polyhydramnios Edema Long philtrum Prominent forehead Overbite Spina bifida occulta Dimple chin Breech presentation Trismus Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Congenital contracture Adducted thumb Knee flexion contracture Glaucoma Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Dental malocclusion Flat face Talipes Arthrogryposis multiplex congenita Camptodactyly Deeply set eye Kyphoscoliosis Mandibular prognathia Long face Highly arched eyebrow Fatigue Velopharyngeal insufficiency Attention deficit hyperactivity disorder Craniosynostosis Hydronephrosis Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Giant platelets Microtia Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Anal stenosis Basal ganglia calcification Abnormality of the ear Short philtrum Polymicrogyria Obsessive-compulsive behavior Perisylvian polymicrogyria Visual impairment Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Alcoholism Iris coloboma Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Amblyopia Broad thumb Coarctation of aorta High, narrow palate Myopathic facies Apathy Broad nasal tip Radial deviation of finger Short femur Foot polydactyly Hamartoma Biparietal narrowing Tibial bowing Abnormal retinal morphology Molar tooth sign on MRI Abnormality of neuronal migration Preaxial hand polydactyly Bilateral cryptorchidism Trigonocephaly Accessory oral frenulum Hand polydactyly Preaxial polydactyly Polycystic kidney dysplasia Tachypnea Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Finger clinodactyly Apraxia Dandy-Walker malformation Esotropia Preaxial foot polydactyly Abnormal oral frenulum morphology Abnormality of the hand Dementia Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Open mouth Vesicoureteral reflux Pulmonic stenosis Congenital cataract Mental deterioration Aggressive behavior Hyperactivity Central Y-shaped metacarpal Lobulated tongue Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Motor aphasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Colitis, related diseases and genetic alterations Hepatomegaly and Congenital cataract, related diseases and genetic alterations