Fever, and Split hand

Diseases related with Fever and Split hand

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

Top matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

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

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Other less relevant matches:

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY 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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Top 5 symptoms//phenotypes associated to Fever and Split hand

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Choanal atresia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Feeding difficulties Growth delay Micropenis Abnormality of the dentition Polydactyly Ventricular septal defect Pulmonary hypoplasia Global developmental delay Toe syndactyly Intrauterine growth retardation Camptodactyly Nystagmus Inguinal hernia Recurrent infections Ectrodactyly Syndactyly Hypertelorism Microcephaly Failure to thrive Scoliosis Pyloric stenosis Ptosis Hypoglycemia Camptodactyly of finger Microphthalmia Postaxial hand polydactyly Wide nasal bridge Renal hypoplasia Hydronephrosis Conductive hearing impairment Hyperkeratosis Postaxial polydactyly Alopecia Hip dislocation Abnormality of the urinary system Immunodeficiency Severe short stature Hypospadias Kyphosis Talipes equinovarus Intellectual disability, severe Seizures Conjunctivitis Hernia Hypohidrosis Hyperhidrosis Abnormality of the genital system Hypoplastic nipples Blepharitis Oligohydramnios Microdontia Heat intolerance Hammertoe Ventriculomegaly Ectodermal dysplasia Oligodactyly Hypodontia Sensorineural hearing impairment Micrognathia Cleft upper lip Strabismus Abnormal facial shape Bifid scrotum 2-3 toe syndactyly

Rare Symptoms - Less than 30% cases

Short neck Keratitis Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Vomiting Hydroureter High palate Absent septum pellucidum Low-set ears Optic atrophy Depressed nasal bridge Sparse axillary hair Hypertension Anteverted nares Generalized hypotonia Recurrent corneal erosions Selective tooth agenesis Muscular hypotonia Autistic behavior Hypertonia Hypoplasia of the radius Self-injurious behavior Proximal placement of thumb Neoplasm Unilateral renal agenesis Cutis marmorata Abnormality of digit Abnormal eyelash morphology Absent hand Abnormality of temperature regulation Perimembranous ventricular septal defect Gastroschisis Pain Abnormality of the metacarpal bones Narrow mouth Scarring Nail dystrophy Hypotrichosis Palmoplantar keratoderma Sepsis Otitis media Mandibular prognathia Increased body weight Widely spaced teeth Erythroderma Absent eyelashes Myopia Delayed skeletal maturation Behavioral abnormality Abnormality of the kidney Long philtrum Patent ductus arteriosus Abnormal heart morphology Cerebellar hypoplasia Upslanted palpebral fissure Hyperactivity Glaucoma Autism Proptosis Gastroesophageal reflux Retrognathia Aggressive behavior Micromelia Abnormality of dental enamel Sleep disturbance Renal cyst Webbed neck Eczema Astigmatism Hypoplasia of penis Congenital diaphragmatic hernia Abnormality of the ribs Recurrent otitis media Aganglionic megacolon Respiratory tract infection Multicystic kidney dysplasia Hand polydactyly Flexion contracture Peripheral demyelination Photophobia Small for gestational age Growth hormone deficiency Vesicoureteral reflux Recurrent respiratory infections Posteriorly rotated ears Small hand Cataract Microcornea Pes cavus Telecanthus Cleft lip Interphalangeal joint contracture of finger Microtia Hypoplasia of the maxilla Oral cleft Anal atresia Long eyelashes Proteinuria Nail dysplasia Omphalocele Cerebral cortical atrophy Abnormality of the skeletal system Sparse eyelashes Muscle weakness Renal dysplasia Hypogonadotrophic hypogonadism Axonal loss Renal agenesis Body odor Aplasia of the ulna Gonadotropin deficiency Ectopic posterior pituitary Thin eyebrow Wide nasal base Breast hypoplasia Oxycephaly Abnormality of the humerus Anterior pituitary hypoplasia Breast aplasia Subglottic stenosis Abnormality of the radius Alopecia universalis Broad eyebrow Laryngeal stenosis Aplasia/Hypoplasia of the ulna Left-to-right shunt Olivopontocerebellar atrophy Abnormal external genitalia Follicular hyperkeratosis Headache Submucous cleft hard palate Cardiomyopathy Macrocephaly Uveitis Parakeratosis Delayed speech and language development Anemia Alopecia of scalp Abnormal eyelid morphology Corneal erosion Unilateral oligodactyly Alopecia totalis Axillary apocrine gland hypoplasia Hypoplastic fingernail Deformed radius Long uvula Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Abnormality of the uterus Laryngeal web Hernia of the abdominal wall Absent axillary hair Broad face Cheilitis Wolff-Parkinson-White syndrome Obesity Tachycardia Episcleritis Paronychia Cerebral cortical hemiatrophy Hypoplasia of the bladder Scleritis Thin fingernail Delayed puberty Pectus carinatum Abnormal pelvis bone morphology Arrhythmia Ichthyosis follicularis Short distal phalanx of finger Unilateral chest hypoplasia Otitis externa Lymphadenopathy Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon Hyperconvex fingernails Abnormal nasolacrimal system morphology Sparse lateral eyebrow Anal stenosis Supraventricular tachycardia Ectopic anus Abnormality of the wrist Hypoplastic scapulae Abnormality of finger Abnormality of the clavicle Sprengel anomaly Short clavicles Clinodactyly Inverted nipples Shawl scrotum Absent radius Abnormality of the upper urinary tract Subcortical cerebral atrophy Short humerus Hyperthyroidism Decreased fertility External genital hypoplasia Hypoplasia of the ulna Hypoplastic toenails Laryngomalacia Corneal scarring Abnormality of the fingernails Convex nasal ridge Round face Wide nose Thrombocytopenia Mixed hearing impairment Atonic seizures Incoordination Short middle phalanx of finger Tricuspid regurgitation Clubbing Reduced renal corticomedullary differentiation Abnormality of the umbilicus Short metatarsal Hypoplastic radial head Plantar hyperkeratosis Dysplastic tricuspid valve Frontal bossing Deep philtrum Relative macrocephaly Opisthotonus Respiratory distress Dilatation Agenesis of corpus callosum Dementia Torticollis Macrotia Umbilical hernia Spontaneous abortion Mental deterioration Developmental regression Elbow flexion contracture Ectopic kidney Limited elbow extension Low anterior hairline Short sternum Projectile vomiting Esophageal stenosis Duplication of internal organs Hypoplastic male external genitalia Malrotation of colon Curly eyelashes Otitis media with effusion Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Peters anomaly Weak cry Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Dislocated radial head Erythema Corneal opacity Clinodactyly of the 5th finger Craniosynostosis Thick eyebrow Thin vermilion border Vertigo Abnormality of the hand Urticaria Pulmonic stenosis Scaling skin Synophrys Psoriasiform dermatitis Prominent nasal bridge Intestinal obstruction Absent eyebrow Plagiocephaly Pallor Hypertropia Abnormality of the vertebral column Postnatal growth retardation Abnormality of the pinna Hypertrophic cardiomyopathy Thin upper lip vermilion Brachycephaly Congenital ichthyosiform erythroderma Prominent forehead Pneumonia Hirsutism Downturned corners of mouth Papule Hypertrichosis Platyspondyly Aspiration Talipes Dry skin Ichthyosis Brain atrophy Specific learning disability Epidermal acanthosis Hypoplasia of dental enamel Recurrent urinary tract infections Abnormal vertebral morphology Abnormality of the hair High, narrow palate Low posterior hairline Blue sclerae High myopia Abnormality of the nail Triangular face Delayed eruption of teeth Tapered finger Hemivertebrae Recurrent bacterial infections Single transverse palmar crease Highly arched eyebrow Opacification of the corneal stroma Orthokeratosis Aplasia/Hypoplasia of the radius Skin erosion Sparse and thin eyebrow Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Xerostomia Hypopituitarism Epiphora Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Thin skin Generalized hypopigmentation Sparse scalp hair Broad nasal tip Abnormality of the foot Carious teeth Short philtrum Blepharophimosis Malar flattening Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Anodontia Dysuria Motor polyneuropathy Transverse vaginal septum Polyhydramnios Constipation Abnormality of cardiovascular system morphology Short nose Diarrhea Edema Downslanted palpebral fissures Brachydactyly Epicanthus Spasticity Slow-growing scalp hair Absence of Stensen duct Abnormal salivary gland morphology Rectovaginal fistula Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Central diabetes insipidus Bladder diverticulum Hypoplasia of the thymus Sparse pubic hair Abnormality of the cervical spine Abnormality of peripheral nerve conduction Intellectual disability, moderate Nephritis Tremor Peripheral neuropathy Motor delay Cognitive impairment Ataxia Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Onion bulb formation Focal segmental glomerulosclerosis Steppage gait Glomerulonephritis Cerebral atrophy Glomerulosclerosis Foot dorsiflexor weakness Frequent falls Sensory impairment Distal sensory impairment Distal amyotrophy Falls Stage 5 chronic kidney disease Distal muscle weakness Hyporeflexia Areflexia Skeletal muscle atrophy Intellectual disability, mild Babinski sign Decreased serum estradiol Intention tremor Motor axonal neuropathy Genu recurvatum Malignant hyperthermia Myoglobinuria Rhabdomyolysis Secondary amenorrhea Axonal degeneration Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Hypergonadotropic hypogonadism Primary amenorrhea Amenorrhea Osteoporosis Decreased testicular size Chorea Polyneuropathy Sensory neuropathy Paresthesia Dysmetria Congenital cataract Abnormal pyramidal sign Myalgia Proximal muscle weakness Kyphoscoliosis Hypogonadism Skeletal dysplasia Low-set, posteriorly rotated ears Conical tooth Decreased circulating aldosterone level Periventricular gray matter heterotopia Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Mesomelic short stature Broad alveolar ridges Increased nuchal translucency Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Hypocholesterolemia Abnormality of the gallbladder Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Hypoplasia of the frontal lobes Septate vagina Sclerocornea Hoarse voice Pili torti Trismus Chronic sinusitis Pustule Keratoconjunctivitis sicca Sparse body hair Agenesis of permanent teeth Supernumerary nipple Anonychia Anhidrosis Brittle hair Atresia of the external auditory canal Sinusitis Sleep-wake cycle disturbance Hyperpigmentation of the skin Inflammatory abnormality of the skin Fine hair Small nail Sparse hair Abnormality of the nervous system Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Tracheal stenosis Severe failure to thrive Feeding difficulties in infancy Coarctation of aorta Holoprosencephaly Hyperbilirubinemia Short toe Short thumb Gingival overgrowth Rhizomelia Amblyopia Dental crowding Abnormal form of the vertebral bodies Cutaneous photosensitivity Intellectual disability, profound Decreased fetal movement Abnormal dermatoglyphics Ambiguous genitalia Narrow forehead Limb undergrowth Dandy-Walker malformation Wide intermamillary distance Intestinal malrotation Premature birth Hypopigmentation of the skin Iris coloboma Finger syndactyly Attention deficit hyperactivity disorder Wide mouth Hypercholesterolemia Aplasia/Hypoplasia of the corpus callosum Microglossia Mesomelia Male pseudohermaphroditism Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Ulnar deviation of finger Increased number of teeth Biparietal narrowing Atrioventricular canal defect Hyperkalemia Scrotal hypoplasia Adrenal insufficiency Overlapping toe Metatarsus adductus Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Clitoral hypertrophy Hyponatremia Precocious puberty Poor suck Reduced number of teeth Optic nerve hypoplasia Renal hypoplasia/aplasia Abnormality of immune system physiology


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