Frontal bossing, and Visual loss

Diseases related with Frontal bossing and Visual loss

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

Top matches:

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

High match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

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:

High match SIALIDOSIS TYPE 1

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

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

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Frontal bossing and Visual loss

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Visual loss. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Intellectual disability Macrocephaly Visual impairment Proptosis Wide nasal bridge Sensorineural hearing impairment Strabismus Short nose Facial palsy Hypertelorism Growth delay Prominent forehead Midface retrusion Cataract Paralysis Hernia Depressed nasal bridge Abnormality of the dentition Increased bone mineral density Hydrocephalus Ventricular septal defect Progressive visual loss Low-set ears Postnatal growth retardation Kyphosis Generalized hypotonia Downslanted palpebral fissures Blindness Muscular hypotonia

Rare Symptoms - Less than 30% cases

Abnormality of the metaphysis Pneumonia Retinal dystrophy Spastic tetraplegia Abnormality of the cerebral white matter Skeletal dysplasia Ataxia Respiratory distress Muscle weakness Dilatation Hemivertebrae Periventricular leukomalacia Telecanthus Neurodegeneration Delayed skeletal maturation Coxa vara Epiphyseal dysplasia Hepatosplenomegaly Developmental regression Posteriorly rotated ears Pancytopenia Bone marrow hypocellularity Hypocalcemia Osteomyelitis Abnormal vertebral morphology Heterotopia Osteopetrosis Facial paralysis Iris coloboma Extramedullary hematopoiesis Coloboma Agenesis of corpus callosum Carious teeth Micrognathia Abnormal facial shape Ventriculomegaly Flexion contracture Feeding difficulties Anemia Hypoplasia of the corpus callosum Decreased nerve conduction velocity Cerebellar atrophy Failure to thrive Aminoaciduria Splenomegaly Severe muscular hypotonia Soft skin Abnormal cranial nerve morphology Retinal detachment Joint laxity Esotropia High myopia Pectus carinatum Myopia Hyperostosis Increased susceptibility to fractures Mandibular prognathia Abnormality of pelvic girdle bone morphology Malar flattening Epicanthus Joint hypermobility Joint dislocation Choanal stenosis Chorioretinal coloboma Cranial nerve paralysis Abnormality of the metacarpal bones Renal tubular acidosis Hyperparathyroidism Pathologic fracture Rhinitis Flared metaphysis Ophthalmoparesis Retinal atrophy Lymphedema Tetany Recurrent fractures Thrombocytopenia High palate Cleft palate Arthritis Genu valgum Short distal phalanx of finger Ectodermal dysplasia Bone pain Osteoarthritis Recurrent urinary tract infections Sandwich appearance of vertebral bodies Secondary hyperparathyroidism Abnormality of epiphysis morphology Progressive macrocephaly Elevated alkaline phosphatase Decreased antibody level in blood Aseptic necrosis Spinal deformities Poor suck Keratitis Epiphora Diabetes insipidus Keratoconjunctivitis sicca Abnormality of visual evoked potentials Gangrene Lewy bodies Mandibular osteomyelitis Corpus callosum atrophy Morphological abnormality of the pyramidal tract Urinary retention Degeneration of the lateral corticospinal tracts EMG: chronic denervation signs Cerebellar cortical atrophy Aganglionic megacolon Lumbar scoliosis Generalized osteosclerosis Fractures of the long bones Abnormality of cardiovascular system morphology Hip osteoarthritis Cranial hyperostosis Acidosis Hepatomegaly Autoamputation Abnormal leukocyte morphology Elevated serum acid phosphatase Tooth abscess Cerebellar gliosis Hypothalamic hypothyroidism Autoamputation of digits Recurrent infections Narrow mouth Immunodeficiency Patent ductus arteriosus Single transverse palmar crease Congenital cataract Micropenis Hypogonadism Butterfly vertebrae Abnormal heart morphology Anterior pituitary hypoplasia Growth hormone deficiency Hypospadias Supernumerary ribs Microphthalmia Sensorimotor neuropathy Vertebral hypoplasia Absent gallbladder Delayed eruption of teeth Gonadotropin deficiency Microcephaly Vertebral fusion Optic nerve hypoplasia Holoprosencephaly Hypogonadotrophic hypogonadism Anophthalmia Tracheoesophageal fistula Spastic diplegia Abnormality of the genital system Specific learning disability Increased number of teeth Esophageal atresia Sclerocornea Missing ribs 11 pairs of ribs Rib fusion Hypoplasia of penis Cryptorchidism Intestinal atresia Cerebellar hypoplasia Hypermetropia Abnormality of the skeletal system Thin vermilion border Arachnodactyly Smooth philtrum Edema Facial asymmetry Short philtrum Cervical hemivertebrae Craniosynostosis Autistic behavior Protruding ear Deeply set eye Thin upper lip vermilion Autism Patent foramen ovale Proximal esophageal atresia Glandular hypospadias Multiple impacted teeth Infantile muscular hypotonia Arachnoid cyst Curly hair Abnormality of coagulation Unilateral renal agenesis Sparse eyebrow Relative macrocephaly Hypothalamic hamartoma Small hand Horseshoe kidney Cerebral visual impairment Exotropia Abnormality of the ribs Narrow forehead Full cheeks Short foot Motor delay Diaphragmatic eventration Choreoathetosis Trigeminal neuralgia Rod-cone dystrophy Anteverted nares Cortically dense long tubular bones Facial palsy secondary to cranial hyperostosis Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Sclerotic vertebral endplates Photophobia Broad clavicles Esodeviation Deviation of finger Diaphyseal thickening Fingernail dysplasia Craniofacial hyperostosis Abnormality of the nose Reduced visual acuity Nyctalopia Broad ribs Recurrent pneumonia Bronchitis Metaphyseal dysplasia Thoracic hypoplasia Short femoral neck Mild short stature Metaphyseal irregularity Neonatal respiratory distress Short ribs Platyspondyly Rhizomelia Bowing of the long bones Limb undergrowth Pigmentary retinopathy Retinal degeneration Astigmatism Delayed puberty Abnormal cortical bone morphology Constriction of peripheral visual field Thoracic kyphosis Reduced bone mineral density Spondylolisthesis Atypical scarring of skin Megalocornea Keratoconus Disproportionate tall stature Hallux valgus Hyperextensible skin Congenital hip dislocation Dentinogenesis imperfecta Blue sclerae Lumbar hyperlordosis Mitral valve prolapse Talipes Scarring Hyperlordosis Glaucoma Buphthalmos Hyperextensibility of the finger joints Anosmia Hyperactivity Increased intracranial pressure Cutaneous syndactyly Tall stature Overgrowth Nail dysplasia Dental malocclusion Finger syndactyly Headache Red hair Syndactyly Cognitive impairment Ptosis Decreased corneal thickness Molluscoid pseudotumors Keratoglobus Palmoplantar cutis laxa Talipes valgus Bell-shaped thorax Ovoid vertebral bodies Progressive neurologic deterioration Macular hypoplasia Fever Hyperreflexia Peripheral neuropathy Spasticity Non-acidotic proximal tubulopathy Low-molecular-weight proteinuria Infra-orbital crease Proximal tubulopathy Cerebral atrophy Short sternum Bicornuate uterus Abnormality of the uterus Widow's peak Hypoplasia of the iris Severe sensorineural hearing impairment Partial agenesis of the corpus callosum Dystonia Abnormality of metabolism/homeostasis Prominent supraorbital ridges Generalized muscle weakness Tetraparesis Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Parkinsonism Tetraplegia Unsteady gait Encephalopathy Abnormal pyramidal sign Mental deterioration Muscular hypotonia of the trunk Hypothyroidism Cerebral cortical atrophy Dementia Constipation Areflexia Long nose Aplasia/Hypoplasia of the corpus callosum Thoracic dysplasia Irregular iliac crest EEG abnormality Coarse facial features Hyperkeratosis Myoclonus Gait disturbance Tremor Skeletal muscle atrophy Enchondroma Corneal opacity Proximal femoral metaphyseal irregularity Cupped ribs Aplasia/hypoplasia of the extremities Narrow greater sacrosciatic notches Prominent sternum Anterior rib cupping Spondylometaphyseal dysplasia Retinopathy Neurological speech impairment Wide anterior fontanel Umbilical hernia Omphalocele Congenital diaphragmatic hernia Intestinal malrotation Broad nasal tip Pulmonary hypoplasia Broad forehead Proteinuria Urinary excretion of sialylated oligosaccharides Abnormality of movement Increased urinary O-linked sialopeptides Cherry red spot of the macula Vascular skin abnormality Dysostosis multiplex Short thorax Slurred speech Abnormal form of the vertebral bodies Thick lower lip vermilion Abnormality of the vertebral endplates


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Broad forehead, related diseases and genetic alterations Hepatomegaly and Myelodysplasia, related diseases and genetic alterations Hydrocephalus and Febrile seizures, related diseases and genetic alterations Ptosis and Neutropenia, related diseases and genetic alterations Flexion contracture and Spinal muscular atrophy, related diseases and genetic alterations Peripheral neuropathy and Abdominal pain, related diseases and genetic alterations