Hypertelorism, and Sinusitis

Diseases related with Hypertelorism and Sinusitis

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


Top matches:

High match FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION


Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

High match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

High 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

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Other less relevant matches:

High match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

High match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

High match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

High match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

High match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

High match PROTEUS SYNDROME


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

High match HURLER-SCHEIE SYNDROME


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

Top 5 symptoms//phenotypes associated to Hypertelorism and Sinusitis

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Constipation

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Pneumonia Recurrent respiratory infections Macrocephaly Otitis media Low-set ears Micrognathia Global developmental delay Abnormality of the dentition Anteverted nares Short stature Chronic otitis media Frontal bossing Bronchitis Mandibular prognathia Skeletal dysplasia Carious teeth Seizures Abnormality of dental enamel Failure to thrive Prominent forehead Short nose Cleft palate Brachydactyly Midface retrusion Clinodactyly of the 5th finger Brachycephaly Pain Macroglossia Malar flattening Abnormality of the metacarpal bones Protruding tongue Gastroesophageal reflux Abnormality of cardiovascular system morphology Craniosynostosis Strabismus Deeply set eye Generalized hypotonia Myopia Wide nasal bridge Cryptorchidism Abdominal pain Recurrent pneumonia Abnormal vertebral morphology Epicanthus Diarrhea Decreased antibody level in blood Hearing impairment Proptosis

Rare Symptoms - Less than 30% cases


Polyhydramnios Kyphoscoliosis Sleep disturbance Syndactyly Behavioral abnormality Heterotopia Gait disturbance Short neck Splenomegaly Kyphosis Cognitive impairment Headache Glaucoma Hyperkeratosis Joint stiffness Open bite Synophrys Dolichocephaly Abnormality of the ribs Delayed eruption of teeth Genu valgum Narrow chest Abnormal form of the vertebral bodies Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Spinal canal stenosis Papilledema Spinal cord compression Delayed speech and language development Intellectual disability, moderate Macrotia Cardiomegaly Anxiety Hemihypertrophy Hyperlordosis Abdominal distention Lumbar hyperlordosis Abnormality of the outer ear Drooling Sensorineural hearing impairment Growth delay Microcephaly Multiple joint contractures Hypoplasia of dental enamel Microdontia Conductive hearing impairment Cataract Feeding difficulties Esotropia Round face Sudden cardiac death Inguinal hernia Hip dislocation Autistic behavior Pes cavus Hypothyroidism Severe short stature Abnormal heart morphology Depressivity Autism Motor delay Recurrent skin infections Sepsis Joint hypermobility Facial asymmetry Cellulitis Conjunctivitis Astigmatism Skin rash Cough Coarse facial features Osteopenia Osteoporosis Malabsorption Abnormality of the skeletal system Recurrent bacterial infections Decrease in T cell count Communicating hydrocephalus Recurrent fractures Hypospadias Recurrent sinusitis Meningitis Agammaglobulinemia Verrucae B lymphocytopenia Bronchiectasis High forehead Erythema Recurrent otitis media Umbilical hernia Respiratory tract infection Downslanted palpebral fissures Lymphopenia Respiratory distress Wide nose Dysphagia Fever Asthma Hemivertebrae Chronic sinusitis Nasal obstruction High palate Confusion Arterial thrombosis Buphthalmos Myofibrillar myopathy Thin bony cortex Midline brain calcifications Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Anisocytosis Lower limb asymmetry Abnormality of the neck Vascular skin abnormality Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Abnormality of the forearm Macroorchidism Abnormality of the wrist Abnormality of finger Head-banging Capillary hemangioma Asymmetry of the thorax Abnormal tracheobronchial morphology Thrombophlebitis Metatarsus valgus Facial hyperostosis Narrow internal auditory canal Excessive daytime sleepiness Sirenomelia Macrodactyly Recurrent aspiration pneumonia Mood changes Portal vein thrombosis Hyperacusis Calvarial hyperostosis Premature atrial contractions Epidermal nevus Generalized hyperkeratosis Pelvic kidney Lymphangioma Testicular neoplasm Upper limb asymmetry Abnormality of upper lip Morphological abnormality of the middle ear Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Sleep-wake inversion Frequent temper tantrums Abnormal lung lobation Exostoses Epiphora Growth abnormality Nasolacrimal duct obstruction Reduced number of teeth Periorbital edema Palmoplantar hyperkeratosis Goiter Hemangioma Venous thrombosis Carcinoma Abnormality of the nail Lymphedema Subcutaneous nodule Lipodystrophy Open mouth Epidermal acanthosis High myopia Overgrowth Finger syndactyly Nevus Gliosis Renal cyst Polymicrogyria Long face Abnormality of skin pigmentation Cachexia Chorioretinal coloboma Lipoma Optic atrophy Neoplasm of the lung Irregular hyperpigmentation Nystagmus Pulmonary embolism Neoplasm Ptosis Generalized hyperpigmentation Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Melanocytic nevus Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Dacryocystocele Dacryocystitis Diabetes insipidus Lacrimal duct atresia Visual loss Hyperostosis Rhinorrhea Recurrent bronchitis Central heterochromia Nevus sebaceous Carpal bone hypoplasia 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 Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Abnormal diaphysis morphology Delayed menarche Abnormal cornea morphology Myelopathy Shield chest Sagittal craniosynostosis Flared iliac wings Cor pulmonale Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Hydrocele testis Tracheal stenosis Dysostosis multiplex Hernia of the abdominal wall Urinary glycosaminoglycan excretion Hypoplastic iliac wing Posterior scalloping of vertebral bodies 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 Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Abnormality of lysosomal metabolism Cervical instability 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 Dermatan sulfate excretion in urine Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Abnormality of the ulna Diastasis recti Thymus hyperplasia Congestive heart failure Limb muscle weakness Hypermetropia Platyspondyly Corneal opacity Pectus carinatum Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Hepatosplenomegaly Arthralgia Retrognathia Hernia Intellectual disability, mild Cardiomyopathy Retinal degeneration Respiratory insufficiency Hepatomegaly Visual impairment Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Everted upper lip vermilion Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Lower limb muscle weakness Hirsutism Obstructive sleep apnea Coarse hair Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Hyperactive deep tendon reflexes Arthropathy Abnormal heart valve morphology Exertional dyspnea Restrictive ventilatory defect Toe walking Abnormality of dental morphology Heart murmur Back pain Easy fatigability Thick vermilion border Increased intracranial pressure Arnold-Chiari malformation Widely spaced teeth Opacification of the corneal stroma Coxa valga Knee flexion contracture Congenital hip dislocation Elbow flexion contracture Short ribs Aortic valve stenosis Lower limb spasticity Progressive visual loss Hip dysplasia Limitation of joint mobility Velopharyngeal insufficiency Abnormality of the immune system Recurrent ear infections Toe syndactyly Cardiac arrest Bradycardia Abnormality of the face Pulmonary arterial hypertension Flat face Tetralogy of Fallot Neurodegeneration Malnutrition Syncope Combined immunodeficiency Hypoplasia of the maxilla Coma Shawl scrotum Ventricular tachycardia Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Hypoglycemia Thin upper lip vermilion Chronic bronchitis Cellular immunodeficiency Abnormality of chromosome stability Arrhythmia Patent ductus arteriosus Encephalopathy Abnormality of neutrophils Impaired T cell function Myopathy Hypocalcemia Cutaneous syndactyly Muscular hypotonia Biventricular hypertrophy Talipes equinovarus Hyperreflexia Crohn's disease Recurrent enteroviral infections Flexion contracture Spasticity Anemia Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Cutaneous syndactyly of toes Ventricular arrhythmia Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Cutaneous finger syndactyly Mixed hearing impairment Prolonged QT interval 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular septal defect Pruritus External ear malformation Opportunistic infection Eczema Broad forehead Thick lower lip vermilion Inflammatory abnormality of the skin Skin ulcer Eosinophilia Urticaria Squamous cell carcinoma Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Recurrent candida infections Lymphoma Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Recurrent fungal infections Fractures of the long bones Persistence of primary teeth Red hair Increased IgE level Recurrent sinopulmonary infections Atopic dermatitis Prominent nose High, narrow palate Neck muscle hypoplasia Down-sloping shoulders Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Dimple chin Abnormality of the thumb Dystrophic fingernails Dystrophic toenail Decreased skull ossification Hypoplastic scapulae Hypoplasia of the zygomatic bone Tapered finger Hearing abnormality Glossoptosis Sprengel anomaly Short clavicles Increased number of teeth Abnormality of pelvic girdle bone morphology Sleep apnea Spina bifida occulta Coxa vara Wormian bones Abnormality of epiphysis morphology Large fontanelles Sloping forehead Vomiting Respiratory failure Cavum septum pellucidum Paresthesia Decreased fetal movement Abnormality of the cardiovascular system Full cheeks Microcornea Single transverse palmar crease Fatigue Retinal detachment Small hand Nephropathy Short palm Falls Oral cleft Dry skin Broad-based gait Arthritis Lethargy Microtia Paralysis Abnormality of the kidney Cleft lip Aggressive behavior EEG abnormality Pes planus Cerebral cortical atrophy Hyperactivity Upslanted palpebral fissure Posteriorly rotated ears Hypertriglyceridemia Omphalocele Hyporeflexia Impaired pain sensation Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Chronic constipation Self-mutilation Overweight Drowsiness Broad palm Pachygyria Chronic mucocutaneous candidiasis Progressive spastic paraplegia Abnormality of the thyroid gland Impulsivity Self-injurious behavior Poor suck Abnormality of the urinary system Sacral dimple Hypercholesterolemia Lissencephaly Increased body weight Hoarse voice Stereotypy Neutropenia Areflexia Weight loss Aspiration Spondyloepiphyseal dysplasia Flat occiput Clubbing Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Hyperkinesis Disproportionate short-limb short stature Chronic diarrhea Joint dislocation Absence seizures Muscle stiffness Rhizomelia Progressive spasticity Recurrent urinary tract infections Encephalocele Limb undergrowth Short metacarpal Premature birth Generalized myoclonic seizures Inability to walk Nausea Talipes Poor speech Generalized tonic-clonic seizures Encephalitis Osteomyelitis Tibial bowing Atonic seizures Clinodactyly Thoracic platyspondyly Obesity Abnormality of metabolism/homeostasis Edema Hypoplasia of the corpus callosum Ventriculomegaly Intrauterine growth retardation Peripheral neuropathy Dehydration Hepatitis Ataxia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Multiple joint dislocation Short humerus Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Abnormality of the humeral epiphysis



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