Myopia, and Narrow forehead

Diseases related with Myopia and Narrow forehead

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


Top matches:

High match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

High match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

High match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


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

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Other less relevant matches:

High match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

High match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

High match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

High match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

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 CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

High match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Myopia and Narrow forehead

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Narrow forehead. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Short stature Cerebellar hypoplasia Optic atrophy Wide nasal bridge Downslanted palpebral fissures Hypertelorism Nystagmus Hypermetropia Brachycephaly Tremor Facial asymmetry Ventriculomegaly Depressed nasal bridge Delayed speech and language development Cataract Brachydactyly Hypoplasia of the corpus callosum Long philtrum Inability to walk Microcephaly Muscular hypotonia High palate Feeding difficulties

Rare Symptoms - Less than 30% cases


Long face Epicanthus Small hand Single transverse palmar crease Fine hair Cutis laxa Macrocephaly Hernia Overgrowth Agenesis of corpus callosum Absent speech Hip dislocation Short nose Abnormality of the dentition Joint hypermobility Low-set ears Motor delay Tapered finger Joint laxity Telecanthus Hyperextensible skin Abnormality of the sternum Ptosis Dandy-Walker malformation Premature ovarian insufficiency Craniosynostosis Poor speech Cerebellar atrophy Prominent forehead Cognitive impairment Osteoporosis Gait ataxia Spasticity Ataxia Hypotelorism Hyperreflexia EEG abnormality Dysmetria Turricephaly Frontal bossing Hip dysplasia Generalized-onset seizure Visual impairment Intellectual disability, severe Irregular dentition Abnormal lip morphology Upper eyelid edema Hypoplasia of the maxilla Infra-orbital fold Muscle weakness Flexion contracture Peripheral neuropathy Skeletal muscle atrophy Macrotia Abnormality of the cerebral white matter Developmental regression Respiratory tract infection Intellectual disability, mild Sensory neuropathy Facial palsy Peripheral axonal neuropathy Limb muscle weakness Neonatal hypotonia Areflexia Polyneuropathy Prolonged bleeding time Urethral stenosis Thick lower lip vermilion Hypogonadism Retrognathia Coarse facial features Umbilical hernia Pes planus Headache Sparse hair Ichthyosis Bruising susceptibility Hirsutism Thick vermilion border Everted lower lip vermilion High myopia Sparse scalp hair Eclabion Decreased body weight Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Hypergonadotropic hypogonadism Redundant skin Increased susceptibility to fractures Aortic aneurysm High pitched voice Esotropia Palpebral edema Abnormality of the vasculature Generalized osteoporosis Tetraplegia Decreased nerve conduction velocity Spastic tetraplegia Postaxial polydactyly Recurrent respiratory infections Pes cavus Posteriorly rotated ears Polydactyly Thin upper lip vermilion Hydronephrosis Low-set, posteriorly rotated ears Smooth philtrum Anal atresia Astigmatism Bulbous nose Short foot Atrial septal defect Bifid uvula Prominent nose Short palpebral fissure Hypertrichosis Choanal atresia Renal dysplasia Sacral dimple Abnormality of the genitourinary system Abnormal cortical gyration Lower limb asymmetry Flared nostrils Abnormality of thyroid physiology Patent ductus arteriosus Respiratory distress Psychosis Increased CSF protein Abnormality of retinal pigmentation Sensorimotor neuropathy Low anterior hairline Paraparesis CNS hypomyelination Dilatation Hemiplegia/hemiparesis Decreased motor nerve conduction velocity 2-3 toe syndactyly Infantile spasms Partial agenesis of the corpus callosum Onion bulb formation Facial diplegia Cleft palate Demyelinating peripheral neuropathy Aqueductal stenosis Restrictive deficit on pulmonary function testing Motor polyneuropathy Progressive peripheral neuropathy EMG: chronic denervation signs Diffuse white matter abnormalities Axonal degeneration/regeneration Limb tremor Decreased sensory nerve conduction velocity Abnormal anterior horn cell morphology Hearing impairment Alopecia Apraxia Cryptorchidism Neoplasm Hypoglycemia Deeply set eye Open mouth Chronic diarrhea Congenital hip dislocation Torticollis Tented upper lip vermilion Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Unicoronal synostosis Diarrhea Hyperhidrosis High forehead Bicoronal synostosis Leukemia Congenital cataract Pulmonic stenosis Lymphoma Growth hormone deficiency Optic nerve hypoplasia Metopic synostosis Absent eyebrow Brachyturricephaly Dysarthria Hydrocephalus Heat intolerance Proptosis Cerebral visual impairment Infantile muscular hypotonia Brisk reflexes Growth delay Abnormal cerebellum morphology Unsteady gait Short neck Blindness Syndactyly Delayed skeletal maturation Reduced visual acuity Postnatal growth retardation Anteverted nares Micromelia Thin vermilion border Thick eyebrow Osteopenia Progressive visual loss Sandal gap Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Acute lymphoblastic leukemia B-cell lymphoma Hand clenching Kyphoscoliosis Premature atrial contractions Abnormality of the breast Abnormal lacrimal duct morphology Failure to thrive Triphalangeal thumb Talipes equinovarus Trigonocephaly Dystonia Kyphosis Wormian bones Hyporeflexia Protruding ear Unilateral ptosis Joint stiffness Distal muscle weakness Pectus carinatum Talipes Dolichocephaly Status epilepticus Choreoathetosis Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Female infertility Epicanthus inversus Abnormal aortic valve morphology Synophrys Multiple lentigines Abnormality of lateral ventricle Abnormal ventricular septum morphology Anterior plagiocephaly Cloverleaf skull Cleft soft palate Coronal craniosynostosis Microphthalmia Increased number of teeth Camptodactyly Blepharophimosis Infertility Congenital ptosis Microcornea Amenorrhea Congenital diaphragmatic hernia Primary amenorrhea Abnormality of the hair Narrow palpebral fissure Holoprosencephaly Visual field defect Cupped ear Hypoplasia of the uterus Short finger Increased circulating gonadotropin level Unilateral breast hypoplasia



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