Myopia, and Constipation

Diseases related with Myopia and Constipation

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

Top matches:

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Other less relevant matches:

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Top 5 symptoms//phenotypes associated to Myopia and Constipation

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Feeding difficulties Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Thin upper lip vermilion

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality Microcephaly Scoliosis Anxiety Posteriorly rotated ears Hyperactivity Hypertelorism Low-set ears Optic atrophy Brachycephaly Attention deficit hyperactivity disorder Autism Gastroesophageal reflux Ataxia Broad nasal tip Pes planus Ptosis Absent speech Midface retrusion Diarrhea High palate Growth delay Downturned corners of mouth Bulbous nose Astigmatism Focal-onset seizure Gait disturbance Pointed chin Depressed nasal bridge Hypermetropia Wide mouth Sensorineural hearing impairment Autistic behavior Hearing impairment Pain Vomiting Hyperlordosis Brachydactyly

Rare Symptoms - Less than 30% cases

Cerebellar atrophy Narrow mouth Motor delay Cerebral cortical atrophy Kyphosis Abnormality of the skeletal system Self-injurious behavior Dysarthria Nystagmus EEG abnormality Exotropia Downslanted palpebral fissures Incoordination Abnormality of movement Coloboma Short neck Generalized-onset seizure Unsteady gait Speech apraxia Feeding difficulties in infancy Muscular hypotonia Hyporeflexia Alacrima Epicanthus Clumsiness High myopia Hypoplasia of the corpus callosum Deeply set eye Aggressive behavior Abnormality of the pinna Synophrys Obsessive-compulsive behavior Broad-based gait Thick eyebrow Sleep disturbance Open mouth Agitation Broad forehead Mandibular prognathia Fever Cerebral atrophy Renal agenesis Overlapping toe Maternal diabetes Neurological speech impairment Long fingers Infertility Disproportionate tall stature Falls Hypopigmentation of the skin Hypoplasia of the maxilla Abnormal cerebellum morphology Macroglossia Optic nerve hypoplasia Overgrowth Frontal bossing Intellectual disability, profound Narrow palate Status epilepticus Abnormality of the face Hypoglycemic seizures Postnatal microcephaly Aspiration Facial hypotonia Intellectual disability, progressive Stereotypy Wide nasal bridge Small face Thoracic kyphoscoliosis Hyperplasia of the maxilla Widely spaced teeth Lumbar hyperlordosis Vertebral clefting Expressive language delay Facial asymmetry Pectus carinatum Ureteral stenosis Mild myopia Hypoplastic helices Laryngotracheomalacia Severe expressive language delay Retrognathia Long hallux Hyperreflexia Macrocephaly Intellectual disability, severe Kyphoscoliosis Dental crowding High forehead Encephalopathy Inguinal hernia Clinodactyly Gait ataxia Mitral regurgitation Obesity Progressive gait ataxia Cerebral palsy Carious teeth Waddling gait Chorea Muscle cramps Hepatic steatosis Inability to walk Poor speech Congenital cataract Apraxia Generalized tonic-clonic seizures Muscular dystrophy Abnormality of the liver Myalgia Proximal muscle weakness Elevated hepatic transaminase Hip dysplasia Lower limb spasticity Hyperkeratosis Muscle fiber atrophy Achalasia Esophagitis Progressive proximal muscle weakness Recurrent ear infections Restrictive ventilatory defect Adrenal insufficiency Right ventricular dilatation Truncal ataxia Athetosis Impulsivity Gowers sign Limb-girdle muscular dystrophy CNS hypomyelination Infantile muscular hypotonia Scapular winging Difficulty walking Elevated serum creatine phosphokinase Drooling Drowsiness Profound global developmental delay Short attention span Fair hair Blue irides Epileptic spasms Overweight Protruding tongue Happy demeanor Atonic seizures Keratoconus Polyphagia Albinism Cerebral white matter atrophy Flat occiput Hyperkinesis Moderate global developmental delay Limb tremor Dystonia Spasticity Myopathy Fatigue Tremor Intrauterine growth retardation Intellectual disability, borderline Hepatomegaly Cataract Abnormal levels of creatine kinase in blood Muscle weakness Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Abnormality of visual evoked potentials Acrocyanosis Focal impaired awareness seizure Hyperventilation Flexion contracture Upslanted palpebral fissure Telecanthus Craniosynostosis Blepharophimosis Microtia Prominent nasal bridge Long face Joint hypermobility Otitis media Hypertrichosis Recurrent otitis media Hoarse voice Toe walking Microtia, first degree Laryngeal cleft Tall chin Cryptorchidism Ventriculomegaly Cerebellar hypoplasia Macrotia Abnormal cardiac septum morphology Smooth philtrum Highly arched eyebrow Intestinal malrotation Wide intermamillary distance Broad thumb Long eyelashes Low anterior hairline Slender finger Hyperechogenic pancreas Subglottic stenosis Volvulus Respiratory tract infection Anteverted nares Atrial septal defect Low-set, posteriorly rotated ears Small hand Short foot Small nail Prominent forehead Coarse facial features Hirsutism Full cheeks Inverted nipples Failure to thrive Anemia Thrombocytopenia Neutropenia Normocytic anemia Steatorrhea Prolonged prothrombin time Prolonged partial thromboplastin time Mild global developmental delay Severe failure to thrive Exocrine pancreatic insufficiency Metaphyseal dysplasia Neurodevelopmental delay Rhizomelia Mild short stature Metaphyseal irregularity Metaphyseal widening Laryngomalacia Genu varum Severe muscular hypotonia Single umbilical artery Cavum septum pellucidum Abnormal electroretinogram Episodic hyperhidrosis Corneal erosion Hypoxemia Recurrent corneal erosions Abnormal pupil morphology Abnormal renal physiology Decreased number of large peripheral myelinated nerve fibers Abnormality of the pleura Increased blood urea nitrogen Decerebrate rigidity Corneal ulceration Decreased corneal reflex Decreased taste sensation Neuropathic arthropathy Abnormality of the peritoneum Episodic hypertension Elevated serum creatinine Iris coloboma Cone/cone-rod dystrophy Abnormality of the outer ear Cerebral visual impairment Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Delayed myelination Short philtrum Recurrent infections due to aspiration Joint laxity Rod-cone dystrophy Hernia Abnormality of cardiovascular system morphology Blindness Decreased sensitivity to hypoxemia Heterochromia iridis Malignant hyperthermia Diastema Recurrent fractures Unilateral cryptorchidism Hypertension Peripheral neuropathy Renal insufficiency Depressivity Areflexia Recurrent respiratory infections Hyperhidrosis Abnormality of the kidney Corneal opacity Nausea and vomiting Nausea Tachycardia Sensory neuropathy Sensory impairment Aseptic necrosis Emotional lability Episodic fever Impaired pain sensation Glomerulopathy Orthostatic hypotension Anhidrosis Epiphora Hyponatremia Hypotension Glomerulosclerosis Osteolysis EMG abnormality Abnormal autonomic nervous system physiology Hypohidrosis Peripheral demyelination Exophoria


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