Hydrocephalus, and Sinusitis

Diseases related with Hydrocephalus and Sinusitis

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

Top matches:

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Medium match HYPOPLASMINOGENEMIA

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Other less relevant matches:

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome|opd syndrome 2|opd ii syndrome|fpo|cranioorodigital syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Hydrocephalus and Sinusitis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Sinusitis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Skeletal dysplasia Failure to thrive Abnormal facial shape Cryptorchidism Depressed nasal bridge Otitis media Abnormality of the dentition Global developmental delay Conductive hearing impairment Recurrent respiratory infections Hypospadias Long philtrum Absent frontal sinuses Wide nose Frontal bossing Brachydactyly Epicanthus Downslanted palpebral fissures Umbilical hernia Cataract Short neck Recurrent infections Telecanthus Osteopenia Hernia Craniosynostosis Inguinal hernia Osteoporosis Wormian bones Wide nasal bridge Abnormality of the skeletal system Prominent forehead Recurrent fractures Short toe Splenomegaly Kyphosis Abnormal vertebral morphology Aortic valve stenosis Intellectual disability, mild Increased bone mineral density Patent ductus arteriosus Postural instability Abnormal cardiac septum morphology Retrognathia Coarse facial features Narrow chest Clinodactyly Talipes equinovarus Osteolysis Abnormality of cardiovascular system morphology Abnormality of the face Growth hormone deficiency Genu valgum Synophrys Dolichocephaly Intestinal malrotation Hepatomegaly Short nose Narrow mouth High forehead Microcephaly Bowing of the long bones Headache Pneumonia Chronic otitis media Malar flattening Cleft palate Platybasia Growth delay Communicating hydrocephalus Recurrent otitis media

Rare Symptoms - Less than 30% cases

Encephalocele Postaxial hand polydactyly Congenital hip dislocation Arthralgia Kyphoscoliosis Hepatosplenomegaly Diastasis recti Thick eyebrow Agenesis of corpus callosum Proptosis Full cheeks Abnormal heart morphology Camptodactyly of finger Flared iliac wings Constipation Long eyelashes Pathologic fracture Radial bowing Congestive heart failure Biconcave vertebral bodies Respiratory insufficiency High palate Spondylolysis Pectus excavatum Hirsutism Coxa valga Flexion contracture Thickened skin Intrauterine growth retardation Abnormal form of the vertebral bodies Abnormality of the ribs Microdontia Mitral stenosis Ptosis Ventricular septal defect Abnormality of the metacarpal bones Atrial septal defect Arnold-Chiari malformation Easy fatigability Preaxial polydactyly Hypoplastic frontal sinuses Coarse hair Back pain Syndactyly Heart murmur Microphthalmia Abnormality of dental morphology Strabismus Carious teeth Platyspondyly Abnormal heart valve morphology Generalized hirsutism Pectus carinatum Short ribs Ventriculomegaly Hypogonadism Motor delay Abnormality of the skin Asthma Cerebellar hypoplasia Hypoplasia of the maxilla Generalized hypotonia Short thumb Short distal phalanx of finger Brachycephaly Midface retrusion Recurrent pneumonia Pain Decreased antibody level in blood Macroglossia Flat face Bone pain Immunodeficiency Diarrhea Anemia Abnormal cornea morphology Chronic bronchitis Nasal obstruction Duodenal atresia Chronic sinusitis Bronchitis Partial agenesis of the corpus callosum Bronchiectasis Broad columella Respiratory tract infection Dandy-Walker malformation Cervical instability Osteolytic defects of the phalanges of the hand Hypothyroidism Hydronephrosis Intellectual disability, moderate Camptodactyly Postnatal growth retardation Coloboma Sensorineural hearing impairment Cognitive impairment Toe syndactyly Periodontitis Prominent occiput Talipes Iris coloboma Premature loss of teeth Abnormality of the fingernails Abnormal pelvis bone ossification Short nail Large sella turcica Renal insufficiency Spondylolisthesis Nuclear cataract Joint laxity Central hypothyroidism Protruding ear U-Shaped upper lip vermilion Paralysis Clitoral hypoplasia Joint hypermobility Urethral stenosis Long hallux Renal cyst Aplasia/Hypoplasia of the earlobes Abnormal thrombocyte morphology Vocal cord paralysis Proportionate short stature Dislocated radial head Vertebral compression fractures Vertebral fusion Labial hypoplasia Delayed cranial suture closure Abnormality of the head Metatarsus adductus Narrow palpebral fissure Large earlobe Persistent open anterior fontanelle Nasolacrimal duct obstruction Dental malocclusion Generalized osteoporosis Abnormality of the nail Snoring Osteolytic defects of the distal phalanges of the hand Sleep apnea Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Apnea Persistence of primary teeth Hyperlordosis Delayed eruption of teeth Hypodontia Osteomyelitis Abnormal pattern of respiration Prominent nose Blue sclerae Small nail Abnormality of epiphysis morphology Small face Narrow palate Abnormality of the thorax Abnormality of the curvature of the vertebral column Macular hypoplasia Internal hemorrhage Giant platelets Low back pain Toe clinodactyly Osteopetrosis Abnormality of the anus Annular pancreas Delayed eruption of primary teeth Agenesis of permanent teeth Arteria lusoria Bilateral camptodactyly Abnormality of the clavicle Ridged nail Congenital thrombocytopenia Delayed eruption of permanent teeth Abnormality of the vertebral column Megakaryocyte dysplasia Coronal craniosynostosis Basilar impression Short metatarsal Omphalocele Broad thumb Large fontanelles Wide anterior fontanel Oligodontia Abnormality of the genitourinary system Prominent supraorbital ridges Short metacarpal Elbow dislocation Rocker bottom foot Hyperostosis Broad hallux Hydroureter Thoracic hypoplasia Interphalangeal joint contracture of finger Bifid uvula Femoral bowing Hypoplastic 5th lumbar vertebrae Patellar dislocation Abnormality of the skull Hypoplasia of the zygomatic bone Decreased skull ossification Abnormality of the mandible Rough bone trabeculation Partial absence of toe Short palm Posteriorly rotated ears Respiratory failure Abnormality of the pinna Broad forehead Confusion Pulmonary hypoplasia Congenital glaucoma Tibial bowing Syringomyelia Rudimentary fibula Chordee Ulnar bowing Sclerosis of skull base Abnormality of the middle ear ossicles Abnormal vertebral segmentation and fusion Bilateral coxa valga Radial deviation of the 2nd finger Fibular aplasia Ureteral obstruction Accessory carpal bones Bulbous tips of toes Vertical clivus Irregular metacarpals Undulate clavicles Wide nasal base Lethal skeletal dysplasia Tarsal synostosis Pierre-Robin sequence Thickened calvaria Synostosis of carpal bones Growth hormone excess Tracheomalacia Glossoptosis Carpal synostosis Myelomeningocele Bilateral conductive hearing impairment Anodontia Short hallux Overlapping fingers Hypoplastic ilia Short 1st metacarpal Broad face Delayed closure of the anterior fontanelle Multiple renal cysts Open bite Basilar invagination Lymphedema Decreased testicular size Tetralogy of Fallot Oligohydramnios Fine hair Abnormality of the genital system Heterotopia Preauricular skin tag Broad nasal tip Joint contracture of the hand Scrotal hypoplasia Anophthalmia Radial deviation of finger Diabetes insipidus Adrenal insufficiency Underdeveloped nasal alae Postaxial polydactyly Occipital encephalocele Cheyne-Stokes respiration Foot acroosteolysis Bilateral vocal cord paralysis Serpentine fibula Crowded carpal bones Tall lumbar vertebral bodies Elongated sella turcica Nystagmus Oral cleft Dilatation Alopecia Upslanted palpebral fissure Polydactyly Micropenis Cleft lip Hypotrichosis Multiple lipomas Facial cleft Abnormality of the voice Myopia Lipoma of corpus callosum Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Midline facial cleft Anterior basal encephalocele Peripheral neuropathy Delayed puberty Morning glory anomaly Joint hyperflexibility Dry skin Thin vermilion border Downturned corners of mouth Skin ulcer Low anterior hairline Cranium bifidum occultum Scleral staphyloma Median cleft lip Conical tooth Lipoma Meningocele Short columella Calvarial skull defect Widow's peak Preaxial foot polydactyly Bifid nasal tip Widely-spaced maxillary central incisors Alopecia totalis Broad philtrum Agenesis of cerebellar vermis Bifid nose Parietal foramina Median cleft palate Absent tibia Broad hallux phalanx Thin upper lip vermilion Ectopic anus Gait disturbance Limb muscle weakness Hypermetropia Corneal opacity Nyctalopia Abnormal pyramidal sign Joint stiffness Hyperkeratosis Glaucoma Abdominal pain Severe short stature Pes cavus Cardiomyopathy Visual impairment Astigmatism Pneumomediastinum Decreased level of plasminogen Cervicitis Vaginitis Geographic tongue Chronic irritative conjunctivitis Abnormality of fontanelles Reduced factor XII activity Abnormality of the mediastinum Abnormality of the fallopian tube Abnormality of the gallbladder Gastrointestinal inflammation Duodenal ulcer Lower limb muscle weakness Retinal degeneration Keratoconjunctivitis Toe walking Spinal cord compression Obstructive sleep apnea Papilledema Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Spinal canal stenosis Hyperactive deep tendon reflexes Arthropathy Exertional dyspnea Restrictive ventilatory defect Multiple joint contractures Increased intracranial pressure Thick vermilion border Widely spaced teeth Opacification of the corneal stroma Abnormality of dental enamel Knee flexion contracture Elbow flexion contracture Abnormality of retinal pigmentation Lower limb spasticity Lumbar hyperlordosis Cardiomegaly Progressive visual loss Hip dysplasia Limitation of joint mobility Sleep disturbance Abnormality of the middle ear Poor wound healing Abnormality of the ulna Asplenia Combined immunodeficiency Malnutrition Lymphopenia Sepsis Neurodegeneration Malabsorption Abnormal respiratory motile cilium morphology Crackles Immotile cilia Nasal polyposis Chronic rhinitis Abdominal situs inversus Polysplenia Shawl scrotum Recurrent sinusitis Male infertility Ciliary dyskinesia Dextrocardia Neonatal respiratory distress Anosmia Situs inversus totalis Abnormal lung morphology Dyskinesia Infertility Cough Rod-cone dystrophy Respiratory distress Protruding tongue Agammaglobulinemia Recurrent pharyngitis Hoarse voice Abnormality of the ovary Stomatitis Abnormality of the larynx Abnormality of the respiratory system Recurrent bronchitis Gingivitis Abnormality of the ear Epiphora Nephritis Recurrent upper respiratory tract infections Abnormality of vision Venous thrombosis Conjunctivitis Gingival overgrowth Cellular immunodeficiency Nephrolithiasis Papule Scarring Abnormality of the eye Visual loss Abnormality of metabolism/homeostasis Blindness Hypoplasia of the corpus callosum Hyperreflexia Impaired T cell function Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Hypoplastic iliac wing Dysostosis multiplex Eyelid coloboma Smooth philtrum Pachygyria Pancytopenia Coarctation of aorta Eczema Dehydration Webbed neck Premature birth Microcornea Single transverse palmar crease Bruising susceptibility Tachycardia Anal atresia Facial asymmetry Leukodystrophy Hip dislocation Neurological speech impairment Small for gestational age Leukemia Finger syndactyly Skin rash Attention deficit hyperactivity disorder Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypoglycemia Pes planus Clinodactyly of the 5th finger Thrombocytopenia Amblyopia Spina bifida Behavioral abnormality Flat occiput Chronic constipation Retinal dysplasia Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Hammertoe Bone marrow hypocellularity Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Cerebral atrophy Optic atrophy Tracheal stenosis Corneal crystals Frontal hirsutism Urinary glycosaminoglycan excretion Delayed menarche Hernia of the abdominal wall Heparan sulfate excretion in urine Mitral valve calcification J-shaped sella turcica Hip subluxation Abnormality of the gingiva Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Peripheral edema Progressive flexion contractures Abnormal nerve conduction velocity Wide cranial sutures Carpal bone hypoplasia Abnormal diaphysis morphology Myelopathy Shield chest Sagittal craniosynostosis Cor pulmonale Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Hydrocele testis Optic nerve compression Thickened ribs Feeding difficulties Abnormality of femoral epiphysis Spasticity Muscular hypotonia Seizures Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormal metaphyseal trabeculation Dermatan sulfate excretion in urine Abnormality of the sella turcica Abnormality of the skull base Posterior scalloping of vertebral bodies Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Nonossified fifth metatarsal


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