Frontal bossing, and Retinal detachment

Diseases related with Frontal bossing and Retinal detachment

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


Top matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

High match BRITTLE CORNEA SYNDROME 1; BCS1


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 DONNAI-BARROW SYNDROME


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

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Other less relevant matches:

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

High match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

High match CUTIS MARMORATA TELANGIECTATICA CONGENITA


Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

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

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME


Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Retinal detachment

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Frontal bossing and Retinal detachment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Seizures Global developmental delay Glaucoma Hearing impairment Cleft palate Epicanthus Ventriculomegaly Wide nasal bridge Strabismus Short nose Micrognathia Short stature Microcornea Generalized hypotonia Heterotopia Depressed nasal bridge Midface retrusion Broad forehead Microphthalmia Deeply set eye Microcephaly Growth delay Muscular hypotonia High myopia Brachycephaly Anteverted nares Cryptorchidism Malar flattening Hyperlordosis Nystagmus Intrauterine growth retardation Oral cleft Hyporeflexia Proptosis Prominent forehead Sensorineural hearing impairment Posteriorly rotated ears Coloboma Abnormality of cardiovascular system morphology Hernia Lissencephaly Polymicrogyria Microtia Hypothyroidism Pes planus Pachygyria Areflexia Hydrocephalus Hypoplasia of the corpus callosum Abnormality of the dentition Decreased fetal movement

Rare Symptoms - Less than 30% cases


Abnormal heart morphology Cleft upper lip Congenital cataract Stereotypy Hoarse voice Hypertriglyceridemia Precocious puberty Hyperacusis Hypercholesterolemia High forehead Cleft lip Syndactyly Edema Self-injurious behavior Flexion contracture Impaired pain sensation Failure to thrive Sleep disturbance Bifid uvula Toe syndactyly Flat face Clinodactyly of the 5th finger Obesity Abnormal vertebral morphology Brachydactyly Peripheral neuropathy Delayed speech and language development Upslanted palpebral fissure Thick upper lip vermilion Osteoarthritis Otitis media Esotropia Platyspondyly Constipation Mandibular prognathia Gastroesophageal reflux Cavum septum pellucidum EEG abnormality Conductive hearing impairment Anxiety Synophrys Excessive daytime sleepiness Pes cavus Anophthalmia Intellectual disability, moderate Aplasia/Hypoplasia of the corpus callosum Abnormal tracheobronchial morphology Joint hypermobility Optic nerve hypoplasia Agenesis of corpus callosum Remnants of the hyaloid vascular system Agyria Type II lissencephaly Peters anomaly Downslanted palpebral fissures Retinal dysplasia Iris coloboma Retinal dystrophy Partial agenesis of the corpus callosum Hypoplasia of the brainstem Ventricular septal defect Buphthalmos Congenital muscular dystrophy Reduced bone mineral density Muscular dystrophy Omphalocele Elevated serum creatine phosphokinase Cerebellar hypoplasia Megalocornea Joint laxity Skeletal dysplasia Encephalocele Intellectual disability, profound Dandy-Walker malformation Limitation of joint mobility Cutaneous syndactyly Cutis laxa Hemangioma Abnormality of digit Ischemic stroke Cortical dysplasia Large for gestational age Micromelia Nephroblastoma Redundant skin Arnold-Chiari malformation Cutis marmorata Arnold-Chiari type I malformation Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Telangiectasia of the skin Syringomyelia Nevus flammeus Purpura Narrow chest Severe postnatal growth retardation Severe failure to thrive Capillary hemangioma Megalencephaly Meningioma Kyphosis Varicose veins Large earlobe Shock Short attention span Multicystic kidney dysplasia Chorioretinal coloboma Leukemia Stroke Postnatal growth retardation Abnormality of the nervous system Deep philtrum Polydactyly Arrhythmia Knee flexion contracture Patent ductus arteriosus Sclerocornea Ectopia pupillae Cognitive impairment Periorbital fullness Neoplasm Corticospinal tract hypoplasia Finger syndactyly Rhizomelia Telangiectasia Thick vermilion border Postaxial hand polydactyly Overgrowth Abnormality of the skin Vesicoureteral reflux Nevus Ascites Postaxial polydactyly Long eyelashes Abnormality of epiphysis morphology Abnormality of the lower limb Coxa vara Smooth philtrum Short thorax Abnormal facial shape Hypospadias Short neck Atrial flutter Arteriovenous malformation Delayed eruption of teeth Abnormal renal morphology Sinusitis Hypoplasia of dental enamel Broad-based gait Abnormality of the cardiovascular system Full cheeks Macroglossia Recurrent ear infections Everted upper lip vermilion Abnormality of the larynx Single transverse palmar crease Small hand Short palm Falls Velopharyngeal insufficiency Recurrent aspiration pneumonia Mood changes Paresthesia Deep palmar crease Increased body weight Lethargy Progressive spastic paraplegia Chronic constipation Bruxism Self-mutilation Overweight Drowsiness Protruding tongue Broad palm Abnormality of the immune system Abnormality of the thyroid gland Broad face Open bite Impulsivity Poor suck Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Duodenal atresia Dry skin Paralysis Talipes equinovarus Skin erosion Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Midline brain calcifications Progressive macrocephaly Abnormality of the forearm Head-banging Arterial stenosis Frequent temper tantrums Dilation of lateral ventricles Sleep-wake inversion Abnormality of the upper limb Hemihypertrophy Leukocoria Displacement of the external urethral meatus Abnormality of the kidney Clinodactyly Premature atrial contractions Aggressive behavior Pelvic kidney Polyhydramnios Cerebral cortical atrophy Hyperactivity Abnormality of upper lip Inguinal hernia Abnormality of metabolism/homeostasis Vascular ring Behavioral abnormality Motor delay Feeding difficulties Pain Ataxia Blue nevus Morphological abnormality of the middle ear Cutis marmorata telangiectatica congenita Nephropathy Hypoplasia of the zygomatic bone Delayed eruption of primary teeth Proximal tubulopathy Skeletal muscle atrophy Muscle weakness Non-acidotic proximal tubulopathy Low-molecular-weight proteinuria Infra-orbital crease Macular hypoplasia Diaphragmatic eventration Short sternum Intellectual disability, severe Bicornuate uterus Abnormality of the uterus Widow's peak Hypoplasia of the iris Severe sensorineural hearing impairment Long nose Epiphyseal dysplasia Prominent supraorbital ridges Optic atrophy Blindness Wide anterior fontanel Cerebellar vermis hypoplasia Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Congenital contracture Atresia of the external auditory canal Severe muscular hypotonia Renal dysplasia Hypoplasia of penis Myopathy Specific learning disability Anal atresia Abnormality of the cerebral white matter Corneal opacity Retinopathy Protruding ear Hydronephrosis Dilatation Aminoaciduria Congenital diaphragmatic hernia Submucous cleft hard palate Scarring Hyperextensible skin Congenital hip dislocation Blue sclerae Lumbar hyperlordosis Mitral valve prolapse Talipes Pectus carinatum Visual loss Hallux valgus Corpus callosum atrophy Gonadal dysgenesis Weak cry Adducted thumb Large fontanelles Facial palsy Retrognathia Respiratory insufficiency Increased susceptibility to fractures Disproportionate tall stature Progressive visual loss Molluscoid pseudotumors Intestinal malrotation Broad nasal tip Pulmonary hypoplasia Telecanthus Proteinuria Umbilical hernia Decreased corneal thickness Keratoglobus Keratoconus Palmoplantar cutis laxa Talipes valgus Red hair Hyperextensibility of the finger joints Dentinogenesis imperfecta Spondylolisthesis Atypical scarring of skin Soft skin Occipital encephalocele Retinal atrophy Large face Lens luxation Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Ulnar bowing Small proximal tibial epiphyses Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Radial bowing Vitreoretinopathy Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Wide tufts of distal phalanges Meningeal calcification Ectopia lentis Renal hypoplasia/aplasia Abnormal localization of kidney Taurodontia Abnormality of the ureter Chronic otitis media Hand polydactyly Failure to thrive in infancy Tented upper lip vermilion Abnormal form of the vertebral bodies Small distal femoral epiphysis Open mouth Delayed puberty Neurological speech impairment Short philtrum Attention deficit hyperactivity disorder Joint stiffness Feeding difficulties in infancy Gait disturbance Sparse eyebrow Sparse eyelashes Bilateral cleft lip Abnormal levels of creatine kinase in blood Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Hypoglycosylation of alpha-dystroglycan Thick cerebral cortex Meningoencephalocele Posterior fossa cyst Cerebellar cyst Cerebellar dysplasia Muscle fiber splitting Aqueductal stenosis Abnormality of the optic nerve Abnormal cortical gyration Aplasia/Hypoplasia involving the skeletal musculature Abnormal aldolase level Coxa valga Hypoplasia of the maxilla Sparse and thin eyebrow Hypohidrosis Amblyopia Recurrent otitis media Sparse scalp hair Thick lower lip vermilion Cerebral calcification Ectodermal dysplasia Genu valgum High palate Hypotrichosis Sparse hair Arthralgia Hyperhidrosis Depressivity Long philtrum Abnormality of the skeletal system Visual impairment Monocular strabismus



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