Macrocephaly, and High myopia

Diseases related with Macrocephaly and High myopia

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


Top matches:

High match FIBROCHONDROGENESIS 2; FBCG2


Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder 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 Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

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 PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

High match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

High match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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

High match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Macrocephaly and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Intellectual disability Proptosis Seizures Prominent forehead Malar flattening Hydrocephalus Glaucoma Microphthalmia Retinal detachment Joint laxity Dilatation Hernia Flexion contracture Hyperlordosis Pes planus Hypertelorism Abnormal facial shape Ventriculomegaly Frontal bossing Retrognathia Generalized hypotonia Short nose Midface retrusion Umbilical hernia Short stature

Rare Symptoms - Less than 30% cases


High pitched voice Ectopia lentis Aortic aneurysm Severe short stature Increased susceptibility to fractures Posteriorly rotated ears Cerebellar hypoplasia Arachnodactyly Kyphosis Depressed nasal bridge Prominent nasal bridge Lumbar hyperlordosis Overgrowth Hyperextensible skin Tall stature Disproportionate tall stature Sensorineural hearing impairment Micrognathia Agenesis of corpus callosum Coloboma Bruising susceptibility Joint hypermobility Intrauterine growth retardation Failure to thrive Growth delay Hyperextensibility of the finger joints Mitral valve prolapse Cutis laxa High palate Poor head control Platyspondyly Wide anterior fontanel Skeletal dysplasia Bell-shaped thorax Hypoplastic ilia Muscular hypotonia Elevated serum creatine phosphokinase Muscular dystrophy Retinal dystrophy Cerebellar vermis hypoplasia Lissencephaly Absent speech Agyria Buphthalmos Congenital muscular dystrophy Cognitive impairment Low-set ears Coronal cleft vertebrae Splayed epiphyses Abnormality of the sternum Prolonged bleeding time Premature ovarian insufficiency Hypergonadotropic hypogonadism Redundant skin Sparse and thin eyebrow Gingival overgrowth Bronchiectasis Decreased body weight Sparse scalp hair Palpebral edema Eclabion Abnormality of the vasculature Generalized osteoporosis Narrow forehead Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Anteverted nares Ventricular septal defect Proteinuria Telecanthus Broad forehead Pulmonary hypoplasia Iris coloboma Thick lower lip vermilion Everted lower lip vermilion Single transverse palmar crease Retinal calcification Tetany Delayed closure of the anterior fontanelle Bilateral microphthalmos Persistence of primary teeth Hypocalcemic seizures Hypocalcemic tetany Thickened cortex of long bones Congenital hypoparathyroidism Postnatal macrocephaly Cortical thickening of long bone diaphyses Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Transient hypophosphatemia Intestinal malrotation Abnormal circulating follicle-stimulating hormone level Abnormality of the medullary cavity of the long bones Cryptorchidism Brachydactyly Long philtrum Alopecia Osteoporosis Hypogonadism Coarse facial features Flattened, squared-off epiphyses of tubular bones Sparse hair Ichthyosis Hirsutism Thick vermilion border Broad nasal tip Lumbar kyphoscoliosis Progressive visual loss Spondyloepiphyseal dysplasia Joint stiffness Dumbbell-shaped long bone Retinopathy Hip dislocation Micromelia Round face Osteoarthritis Recurrent otitis media Abnormality of the metaphysis Abnormality of epiphysis morphology Rhizomelia Joint dislocation Coxa vara Neonatal respiratory distress Flared metaphysis Inguinal hernia Short thorax Chorioretinal atrophy Rhegmatogenous retinal detachment Arthropathy Hip contracture Tracheomalacia Glossoptosis Vitreoretinopathy Lens luxation Delayed epiphyseal ossification Tracheal stenosis Hypoplastic pelvis Enlarged thorax Disproportionate short-trunk short stature Conductive hearing impairment Depressivity Enlarged joints Abnormality of the uterus Congenital diaphragmatic hernia Omphalocele Heterotopia Abnormal vertebral morphology Aminoaciduria Aplasia/Hypoplasia of the corpus callosum Hyperphosphatemia Prominent supraorbital ridges Epiphyseal dysplasia Long nose Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Bicornuate uterus Respiratory distress Short sternum Proximal tubulopathy Diaphragmatic eventration Macular hypoplasia Infra-orbital crease Low-molecular-weight proteinuria Non-acidotic proximal tubulopathy Cleft palate Pain Ptosis Motor delay Gait disturbance Abnormality of the skeletal system Short neck Decreased skull ossification Increased bone mineral density Hypoparathyroidism Arnold-Chiari malformation Feeding difficulties Corneal opacity Reduced visual acuity Polyhydramnios Neonatal hypotonia Respiratory failure Severe global developmental delay Poor speech Retinal degeneration Bilateral sensorineural hearing impairment Encephalocele Progressive microcephaly Respiratory insufficiency due to muscle weakness CNS hypomyelination Abnormality of the cerebral white matter Hypoplasia of the brainstem Occipital encephalocele Hypoventilation Abnormally large globe Retinal coloboma Type II lissencephaly Cortical cataract Epicanthus Abnormality of the dentition Visual loss Scarring Pectus carinatum Talipes Myopathy Muscle weakness Microcephaly Blue sclerae Abnormal cerebellum morphology Cerebellar atrophy Ataxia Cerebellar cyst Upslanted palpebral fissure Cerebral cortical atrophy Gait ataxia Mandibular prognathia Macrotia High forehead Kyphoscoliosis Difficulty walking Holoprosencephaly Leukodystrophy Long face Triangular face Severe expressive language delay Intellectual disability, profound Cerebral calcification Sparse eyebrow Large hands Polymicrogyria Long fingers Megalencephaly Long foot Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Intellectual disability, severe Congenital hip dislocation Papilledema Postnatal growth retardation Scaphocephaly Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Entropion Pes valgus Dural ectasia Narrow palm Prominent scalp veins Short ribs Anemia Edema Delayed skeletal maturation Abnormality of the liver Reduced subcutaneous adipose tissue Small for gestational age Hypermetropia Congenital cataract Carious teeth Infertility Neutropenia Decreased testicular size Small nail Delayed speech and language development Hypocalcemia Delayed cranial suture closure High hypermetropia Basal ganglia calcification Proportionate short stature Aortic root aneurysm Metaphyseal widening Reduced bone mineral density Decreased corneal thickness Hypoplasia of the corpus callosum Hallux valgus Keratoconus Megalocornea Soft skin Atypical scarring of skin Spondylolisthesis Dentinogenesis imperfecta Cupped ribs Red hair Talipes valgus Palmoplantar cutis laxa Keratoglobus Molluscoid pseudotumors Hypoplastic pubic bone Thoracic hypoplasia Hypoplastic ischia Hypertension Metaphyseal cupping Pectus excavatum Gastroesophageal reflux Craniosynostosis Arthrogryposis multiplex congenita High, narrow palate Premature birth Oligohydramnios Increased body weight Protuberant abdomen Relative macrocephaly Lipodystrophy Abnormal cartilage collagen



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Vertigo, related diseases and genetic alterations Delayed speech and language development and Pulmonary arterial hypertension, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more