Fever, and Craniosynostosis

Diseases related with Fever and Craniosynostosis

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

Top matches:

Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

Other less relevant matches:

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

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS 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

Low match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Craniosynostosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Anemia Hypertelorism Neoplasm Abnormal facial shape Arthritis Proptosis Macrocephaly Generalized hypotonia Abnormality of the dentition Low-set ears Nystagmus Depressed nasal bridge Long philtrum Short stature Frontal bossing Clinodactyly of the 5th finger High palate Strabismus Immunodeficiency Hypertonia Delayed speech and language development Ptosis Cleft palate Hearing impairment Vomiting Constipation Headache Pain Pneumonia Brachycephaly Feeding difficulties

Rare Symptoms - Less than 30% cases

Low posterior hairline Astigmatism Wide nasal bridge Premature loss of teeth Hydrocephalus Purpura Hypoplasia of the corpus callosum Short neck Ventricular septal defect Hip dislocation Rickets Pallor Renal cyst Lymphopenia Bone pain Micrognathia Increased intracranial pressure Hypercalcemia Arthralgia Behavioral abnormality Skeletal dysplasia Telecanthus Decreased antibody level in blood Overgrowth Attention deficit hyperactivity disorder Hepatosplenomegaly High myopia Abnormality of the pinna Polymicrogyria Thin vermilion border Lymphadenopathy Autistic behavior Retrognathia High, narrow palate Narrow mouth Visual impairment Inguinal hernia Abnormal heart morphology Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Autism Atrial septal defect Hyperhidrosis Cellulitis Splenomegaly Sensorineural hearing impairment Failure to thrive Anteverted nares Optic atrophy Hypertension Myopia Osteomyelitis Apnea Juvenile rheumatoid arthritis Delayed eruption of teeth Papule Perimembranous ventricular septal defect Skin rash Prominent forehead Recurrent respiratory infections Abnormality of the skeletal system Growth delay Syndactyly Micromelia Papilledema Clinodactyly Blue sclerae Glaucoma Widely spaced teeth Elbow flexion contracture Spontaneous abortion Triangular face Torticollis Thick eyebrow Microdontia Sepsis Low anterior hairline Relative macrocephaly Hypoplasia of the radius Otitis media Abnormality of the urinary system Incoordination Increased body weight Microcornea Pulmonary hypoplasia Webbed neck Downturned corners of mouth Hypertrichosis Hirsutism Small hand Highly arched eyebrow Neoplasm of the central nervous system Choanal atresia Renal hypoplasia Congenital diaphragmatic hernia Single transverse palmar crease Tapered finger Sleep disturbance Recurrent urinary tract infections Long eyelashes Aspiration Vesicoureteral reflux Lymphangioma Cleft upper lip Bronchogenic cyst Cryptorchidism Keloids Upper limb asymmetry Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Retinal hamartoma Talipes equinovarus Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Testicular neoplasm Epidermal nevus Intrauterine growth retardation Cardiomyopathy Vertigo Camptodactyly Toe syndactyly Pulmonic stenosis Synophrys Small for gestational age Prominent nasal bridge Respiratory tract infection Venous malformation Epibulbar dermoid Short metatarsal Nephrogenic diabetes insipidus Postnatal growth retardation Hypertrophic cardiomyopathy Intellectual disability, severe Aggressive behavior Proteinuria Conductive hearing impairment Hypoglycemia Thin upper lip vermilion Gastroesophageal reflux Mandibular prognathia Hyperactivity Severe short stature Delayed skeletal maturation Hypospadias Hernia Deep philtrum Esophageal stenosis Pyloric stenosis Retrobulbar optic neuritis Combined immunodeficiency Pancytopenia Broad forehead Midface retrusion Short nose Recurrent streptococcus pneumoniae infections Conical incisor Periorbital edema Ectodermal dysplasia Hypodontia Dry skin Abnormal granulocyte morphology Pseudopapilledema Severe combined immunodeficiency Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Uveitis Amyloidosis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Biparietal narrowing Increased head circumference Reduced bone mineral density Broad-based gait Titubation Broad face Delayed ability to walk Ankle clonus Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Optic nerve hypoplasia Tented upper lip vermilion Finger clinodactyly Horizontal nystagmus Clonus Cyanosis Postnatal macrocephaly Abnormal cerebellum morphology Flat face Dysmetria Muscular hypotonia of the trunk Rigidity Gait ataxia Cerebellar hypoplasia Absent speech Cerebellar atrophy Tremor Hyperreflexia Epicanthus Urticaria Joint dislocation Self-injurious behavior Oligodactyly 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 Ectrodactyly Hypoplastic nipples Short sternum Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Peters anomaly Hand oligodactyly Vasculitis Hypoplastic radial head Meningitis Premature birth Migraine Nausea and vomiting Myalgia EEG abnormality Blindness Edema Fatigue Brachydactyly Hepatomegaly Dysplastic tricuspid valve Abnormality of the umbilicus Phocomelia Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Thrombophlebitis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Generalized hyperkeratosis Growth abnormality Vascular skin abnormality Microtia Coarctation of aorta Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Chorea Bifid uvula Hemolytic anemia Iris coloboma Bulbous nose Generalized tonic-clonic seizures Short philtrum Primary amenorrhea Autoimmunity Blepharophimosis Abnormality of the kidney Cleft lip Hydronephrosis Umbilical hernia Hypothyroidism Posteriorly rotated ears Patent ductus arteriosus Microphthalmia Flexion contracture Short palpebral fissure Renal dysplasia Phosphoethanolaminuria Inflammation of the large intestine Tetany Myelomeningocele Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Acne Broad thumb Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Hypocalcemia Spina bifida Exotropia Amblyopia Cognitive impairment Elevated plasma pyrophosphate Anterior segment developmental abnormality Pruritus Gingivitis Skin vesicle Chronic otitis media Eosinophilia Abnormality of the hair Skin ulcer Abnormality of the face Eczema Lymphoma Recurrent fractures Joint hyperflexibility Cough Atelectasis Deeply set eye Osteopenia Dilatation Pulmonary insufficiency Premature loss of primary teeth Chronic pain Chondrocalcinosis Osteomalacia Waddling gait Respiratory failure Respiratory distress Dystrophic fingernails Increased IgE level Elevated urine pyrophosphate Bowing of the legs Skin dimple over apex of long bone angulation Unossified vertebral bodies Low alkaline phosphatase Rachitic rosary Decreased calvarial ossification Widely patent fontanelles and sutures Vertebral clefting Short lower limbs Skin dimples Metaphyseal cupping Hyperphosphatemia Abnormality of the voice Paronychia Intracranial hemorrhage Hypercalciuria Increased susceptibility to fractures Disproportionate short-limb short stature Nephrocalcinosis Short ribs Anorexia Platyspondyly Irritability Polyhydramnios Muscular hypotonia Generalized abnormality of skin Seborrheic dermatitis Hypoplasia of the thymus Asymmetry of the thorax Hyperostosis Generalized hyperpigmentation Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Melanocytic nevus Spinal canal stenosis Chorioretinal coloboma Lipodystrophy Cachexia Reduced number of teeth Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Venous thrombosis Abnormality of dental enamel Generalized hirsutism Pulmonary embolism Irregular hyperpigmentation Abnormal vertebral morphology Abnormality of the neck Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Hemihypertrophy Lower limb asymmetry Abnormal lung lobation Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Capillary hemangioma Exostoses Lipoma Neoplasm of the lung Abnormality of the nail Sinusitis Aplasia of the uterus Conotruncal defect Cataract Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Vascular tortuosity Kyphosis Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Interrupted aortic arch Graves disease Downslanted palpebral fissures Visual loss Lymphedema Abdominal distention Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Heterotopia Abnormal form of the vertebral bodies Open mouth Epidermal acanthosis Round face Nevus Gliosis Sudden cardiac death Long face Abdominal pain Abnormality of skin pigmentation Confusion Facial asymmetry Carious teeth Dolichocephaly Finger syndactyly Joint stiffness Intellectual disability, moderate Carcinoma Kyphoscoliosis Macrotia Hyperkeratosis Truncal titubation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Gliosis, related diseases and genetic alterations Intellectual disability, severe and Hypertonia, related diseases and genetic alterations