Hypertelorism, and Progressive visual loss

Diseases related with Hypertelorism and Progressive visual loss

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

Top matches:

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

Other less relevant matches:

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

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

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Progressive visual loss

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Progressive visual loss. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Sensorineural hearing impairment Abnormal facial shape Seizures Hernia Frontal bossing Generalized hypotonia Visual impairment Downslanted palpebral fissures Long philtrum Proptosis Umbilical hernia Muscular hypotonia Dilatation Respiratory distress Headache Myopia Genu valgum Retinal degeneration Dolichocephaly Nyctalopia Visual loss Kyphosis Nystagmus Growth delay Blindness Cataract Congestive heart failure Osteopenia Ventricular septal defect Retinal dystrophy Ptosis Coarse facial features Anteverted nares Severe global developmental delay Inguinal hernia Pneumonia Skeletal dysplasia Telecanthus Stroke Delayed puberty Astigmatism Pectus excavatum Pectus carinatum High palate Lumbar hyperlordosis Thick vermilion border Synophrys Heart murmur Convex nasal ridge Aortic regurgitation Abnormal vertebral morphology Cardiomyopathy Abnormality of the skeletal system Iris coloboma Hepatomegaly Low-set ears Kyphoscoliosis Retrognathia Corneal opacity Thick eyebrow Conductive hearing impairment Long face Postnatal growth retardation Reduced visual acuity Increased intracranial pressure Short neck Delayed skeletal maturation Peripheral visual field loss Strabismus

Rare Symptoms - Less than 30% cases

Abnormality of lysosomal metabolism Aortic valve stenosis Wide mouth Macrotia Joint laxity Pallor Abnormality of mucopolysaccharide metabolism Behavioral abnormality Edema Arachnodactyly Abnormality of the tonsils Easy fatigability Respiratory insufficiency Abnormality of the dentition Diarrhea Increased size of nasopharyngeal adenoids Hypertension Abnormality of glycosaminoglycan metabolism Hiatus hernia Cognitive impairment Motor delay Vomiting Arthropathy Flexion contracture Gingival overgrowth Joint hyperflexibility Highly arched eyebrow Microcornea Prominent nose Gingivitis Intellectual disability, profound Short chin Thoracic scoliosis Hypoplasia of teeth Failure to thrive Exotropia Progressive hearing impairment Skeletal muscle atrophy Long eyelashes Neonatal hypotonia High, narrow palate Abnormality of skin pigmentation Elevated hepatic transaminase Retinopathy Feeding difficulties in infancy Recurrent respiratory infections Split hand Constipation Dermatan sulfate excretion in urine Pes cavus Abnormality of dental morphology Recurrent otitis media Abnormal form of the vertebral bodies Thickened skin Abnormality of retinal pigmentation Flared iliac wings Generalized hirsutism Coxa valga Abnormality of dental enamel Opacification of the corneal stroma Widely spaced teeth Back pain Cor pulmonale Abnormality of the ribs Communicating hydrocephalus Tracheal stenosis Dysostosis multiplex Toe walking Diastasis recti Obstructive sleep apnea Multiple joint contractures Restrictive ventilatory defect Protuberant abdomen Rhinitis Abnormal heart valve morphology Sagittal craniosynostosis Cardiomegaly Abdominal pain Abnormal nerve conduction velocity Spinal canal stenosis Glaucoma Urinary glycosaminoglycan excretion Hepatosplenomegaly Hernia of the abdominal wall Joint stiffness Craniosynostosis Heparan sulfate excretion in urine J-shaped sella turcica Hip subluxation Abnormality of the gingiva Camptodactyly of finger Microdontia Abnormal pyramidal sign Carious teeth Abnormal diaphysis morphology Hirsutism Wide nose Myelopathy Sleep disturbance Macroglossia Asthma Limitation of joint mobility Otitis media Hip dysplasia Elbow flexion contracture Splenomegaly Prominent forehead Aplasia/Hypoplasia of the corpus callosum Narrow forehead Single transverse palmar crease Retinal detachment Platyspondyly Microphthalmia Intellectual disability, mild Brachydactyly Papilledema Coloboma Prominent sternum Rod-cone dystrophy Congenital diaphragmatic hernia Hypoplasia of the corpus callosum Ventriculomegaly Talipes equinovarus Short nose Prominent supraorbital ridges Facial asymmetry Small hand Agenesis of corpus callosum Thickened ribs Malar flattening Broad nasal tip Epicanthus High myopia Recurrent pneumonia Short ribs Cutis laxa Pigmentary retinopathy Clinodactyly of the 5th finger Thoracic hypoplasia Coxa vara Pes planus Wide nasal bridge Mandibular prognathia Epiphyseal dysplasia Mental deterioration Sandal gap Intellectual disability, moderate Heterotopia Anterior rib cupping Hypermetropia Intracranial hemorrhage Failure to thrive in infancy Venous thrombosis Leukopenia Radioulnar synostosis Recurrent skin infections Laryngomalacia Reduced number of teeth Short metatarsal Precocious puberty Cubitus valgus Rheumatoid arthritis Hip dislocation Constriction of peripheral visual field Misalignment of teeth Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Facial hypotonia Cerebral hemorrhage Vocal cord paralysis Microglossia Posterior subcapsular cataract Subcapsular cataract Weak cry Low anterior hairline Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Intellectual disability, progressive Aciduria Preauricular skin tag Fine hair Diabetes mellitus Cerebellar hypoplasia Obesity Thrombocytopenia Recurrent infections Intrauterine growth retardation Cryptorchidism Microcephaly Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Widely patent coronal suture Gastroesophageal reflux 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 Posterior scalloping of vertebral bodies Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Hypothyroidism Thin upper lip vermilion Progressive microcephaly Neutropenia Syndactyly Brachycephaly Tall stature Clumsiness Open mouth Decreased fetal movement Mitral valve prolapse Granulocytopenia Growth hormone deficiency Short metacarpal Hypoplasia of the maxilla Tapered finger Arthritis Joint hypermobility Micromelia Smooth philtrum Neurological speech impairment Finger syndactyly Small for gestational age Prominent nasal bridge Short philtrum Thin vermilion border Paralysis Protruding ear Respiratory tract infection Bull's eye maculopathy Hemeralopia Congenital neutropenia Recurrent ear infections Atlantoaxial dislocation Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Diaphyseal thickening Enlargement of the wrists Delayed ossification of carpal bones Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Conical tooth Angina pectoris Hypoplastic ilia Abnormal hand morphology Abnormality of the middle ear ossicles Large earlobe Broad ischia Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Flaring of rib cage Cervical myelopathy Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Thoracolumbar kyphoscoliosis Calvarial hyperostosis Upper airway obstruction Beaking of vertebral bodies Hyperplasia of the maxilla Feeding difficulties Full cheeks Delayed eruption of teeth Neurodegeneration Everted lower lip vermilion Inability to walk Dry skin Abnormality of eye movement Apnea Dyspnea Arrhythmia Depressivity Hydrocephalus Delayed speech and language development Slender toe Abnormality of the cardiovascular system Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Exercise-induced muscle stiffness Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Abnormality of the skin Interphalangeal joint contracture of finger Abnormality of the respiratory system Language impairment Abnormality of the clavicle Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Palpebral edema Hypoplasia of the odontoid process Short clavicles Protruding tongue Thickened calvaria Coronary artery atherosclerosis Flared metaphysis Metatarsus adductus Stridor Hemiplegia Myocardial infarction Recurrent upper respiratory tract infections Hyperammonemia Sleep apnea Corneal dystrophy Cerebral palsy Spastic paraparesis Abnormality of epiphysis morphology Chronic diarrhea Left ventricular hypertrophy Decreased body weight Encephalocele Mitral regurgitation Hypertrichosis Progressive neurologic deterioration Dilated third ventricle Abnormality of the optic disc Dyschromatopsia Calcific stippling Blepharophimosis Hypoplasia of the iris Widow's peak Abnormality of the uterus Respiratory failure Osteoporosis Bicornuate uterus Short sternum Fatigue Proximal tubulopathy Diaphragmatic eventration Generalized cerebral atrophy/hypoplasia Fetal ascites Severe sensorineural hearing impairment Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Scarring Partial agenesis of the corpus callosum Delayed cranial suture closure Hyperextensible skin Pulmonary artery stenosis Growth hormone excess Tracheomalacia Aortic root aneurysm Keratoconus Atrophic scars Blurred vision Impotence Epiphora Hyperglycemia Aminoaciduria Hyperinsulinemia Ischemic stroke Pulmonic stenosis Hypogonadotrophic hypogonadism Increased body weight Gynecomastia Diplopia Telangiectasia Thin skin Ventricular hypertrophy Amenorrhea Hypotension Bruising susceptibility Vertigo Long nose Cortical dysplasia Decreased muscle mass Wide anterior fontanel Aortic aneurysm Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Patent ductus arteriosus Neurogenic bladder Congenital nystagmus Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Relative macrocephaly Posterior staphyloma Genu varum Abnormal palate morphology Abnormal heart morphology Short toe Dental crowding Thick lower lip vermilion Gait ataxia Bilateral sensorineural hearing impairment Autism Renal agenesis Esotropia Hydronephrosis Short 2nd toe Absent speech Aplasia/Hypoplasia of the cerebellum Renal cyst Hammertoe Decreased nerve conduction velocity Macular hypoplasia Aspiration Large fontanelles Pachygyria Cholestasis Infra-orbital crease Peripheral demyelination Gliosis Abdominal distention Ascites Hepatic steatosis Intellectual disability, severe Polymicrogyria Talipes Abnormality of the cerebral white matter Low-molecular-weight proteinuria Abnormality of the liver Non-acidotic proximal tubulopathy Spasticity High forehead Polyhydramnios Upslanted palpebral fissure Atrial septal defect Hypospadias Cerebellar atrophy Soft skin Male hypogonadism Limited shoulder movement Blepharitis Broad ribs Sparse axillary hair Choanal stenosis Hydrocele testis Concave nasal ridge Elevated circulating parathyroid hormone level Abnormality of the ulna Hypoplastic iliac wing Parathyroid adenoma Spinal cord compression Chronic sinusitis Craniofacial hyperostosis Bilateral conductive hearing impairment Dilation of lateral ventricles Diaphyseal sclerosis Craniofacial osteosclerosis Hyperactive deep tendon reflexes Cortical sclerosis Exertional dyspnea Photophobia Chronic otitis media Limb undergrowth Coarse hair Arnold-Chiari malformation Abnormality of the metacarpal bones Abnormality of the metaphysis Sparse pubic hair Facial diplegia Rhizomelia Choanal atresia Achromatopsia Abnormality of the acetabulum Prominent glabella Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Blue cone monochromacy Delayed menarche Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Mitral valve calcification Aortic valve calcification Hyperparathyroidism Abnormality of the radius Corneal crystals Peripheral edema Increased bone mineral density Wide cranial sutures Platybasia Carpal bone hypoplasia Elevated alkaline phosphatase Abnormal cornea morphology Hyperostosis Nasal obstruction Shield chest Bowing of the long bones Knee flexion contracture Pituitary hypothyroidism Dyspareunia Aortic tortuosity Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Cranial nerve VI palsy Decreased fertility in males Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Female hypogonadism Gait disturbance Sudden loss of visual acuity Decreased circulating ACTH level Decreased female libido Arterial tortuosity Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Bladder diverticulum Adrenocorticotropic hormone deficiency Omphalocele Intestinal malrotation Congenital hip dislocation Narrow greater sacrosciatic notches Neonatal respiratory distress Lower limb spasticity Metaphyseal irregularity Mild short stature Short femoral neck Metaphyseal dysplasia Bronchitis Bell-shaped thorax Thoracic kyphosis Ovoid vertebral bodies Thoracic dysplasia Spondylometaphyseal dysplasia Aplasia/hypoplasia of the extremities Pulmonary hypoplasia Lower limb muscle weakness Limb muscle weakness Cupped ribs Proximal femoral metaphyseal irregularity Enchondroma Irregular iliac crest Midface retrusion Arthralgia Posteriorly rotated ears Hyperkeratosis Proteinuria Severe short stature Broad forehead Delayed ossification of the hand bones


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