Myopia, and Short philtrum

Diseases related with Myopia and Short philtrum

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


Top matches:

High match GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME


Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME

High match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

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Other less relevant matches:

High match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


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

High match MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME


Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

High match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

High match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

High match COHEN SYNDROME


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

High match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS 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

Top 5 symptoms//phenotypes associated to Myopia and Short philtrum

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Mandibular prognathia Short stature Muscular hypotonia Open mouth Brachycephaly Micrognathia Scoliosis Generalized hypotonia Depressed nasal bridge Gastroesophageal reflux Hearing impairment Delayed puberty Upslanted palpebral fissure Self-injurious behavior Wide nasal bridge Anteverted nares Autism Prominent nasal bridge Optic atrophy Hypoplasia of the corpus callosum High, narrow palate High palate Cryptorchidism Wide mouth Short nose Arachnodactyly Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Growth delay Pes planus Sensorineural hearing impairment Broad forehead Thick eyebrow Thick vermilion border Sleep disturbance Feeding difficulties Broad nasal tip Brachydactyly Constipation Prominent nose Nystagmus Obesity Delayed speech and language development Neurological speech impairment Deeply set eye Ventricular septal defect Astigmatism Narrow mouth Low-set ears Downslanted palpebral fissures Ptosis Failure to thrive

Rare Symptoms - Less than 30% cases


Narrow palm Slender build Sparse eyebrow Nasal speech Narrow face Dental crowding Long face Tapered finger Thick lower lip vermilion Single transverse palmar crease Wide intermamillary distance Decreased fetal movement Failure to thrive in infancy Anxiety Smooth philtrum Synophrys Aplasia/Hypoplasia of the corpus callosum Abnormality of the pinna Intellectual disability, moderate Feeding difficulties in infancy Epicanthus Autistic behavior Ataxia Aggressive behavior Coarse facial features Telecanthus Kyphosis Microcornea Frontal bossing Abdominal distention Specific learning disability Motor delay Preauricular skin tag Abnormality of the dentition Precocious puberty Chorioretinal dystrophy Downturned corners of mouth Iris coloboma Joint laxity Micropenis Hypothyroidism Midface retrusion Behavioral abnormality Short neck Widely spaced teeth Kyphoscoliosis Supernumerary nipple Intellectual disability, progressive Abnormal electroretinogram Muscular hypotonia of the trunk Retrognathia Patent ductus arteriosus Abnormality of visual evoked potentials Hyporeflexia Cerebral atrophy Hand polydactyly Cleft palate Coarse hair Finger clinodactyly Malar flattening Syndactyly Cerebral visual impairment Toe syndactyly Clinodactyly Protruding ear Low anterior hairline High forehead Talipes equinovarus Gingival overgrowth Postnatal microcephaly Absent speech Pectus excavatum Gait disturbance Hypermetropia Anemia Abnormality of the hip bone Thick hair Weak cry Cubitus valgus Dystonia Abnormal eyelash morphology Hypoplasia of the zygomatic bone Abnormal eyelid morphology Aplasia/Hypoplasia of the earlobes Aplasia/Hypoplasia of the tongue Macrodontia Reduced number of teeth Cat cry Slender toe Fatigue Abnormality of the skeletal system Intellectual disability, severe Encephalopathy Pneumonia Cataract Onychauxis Abnormality of upper lip Pes cavus Postprandial hyperglycemia Hypertension Aniridia Sandal gap Abnormality of the genital system Turricephaly Exostoses Depressed nasal tip Decreased skull ossification Cutaneous syndactyly Sparse lateral eyebrow Craniofacial dysostosis Congenital ptosis Parietal foramina Multiple exostoses Wormian bones Cutaneous syndactyly between fingers 2 and 5 Intrauterine growth retardation Abnormality of retinal pigmentation Microphthalmia Underdeveloped nasal alae Finger syndactyly Anal atresia Esotropia Joint hyperflexibility Abnormality of skin pigmentation Neutropenia Hypoplasia of the maxilla Mitral valve prolapse Long eyelashes Nephroblastoma Genu valgum Severe global developmental delay Gait ataxia Triangular nasal tip Joint stiffness Conductive hearing impairment EEG abnormality Ventriculomegaly Peripheral neuropathy Overhanging nasal tip Broad fingertip Cleft upper lip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Attention deficit hyperactivity disorder Retinal detachment Pes valgus Abnormality of the ureter Abnormal tracheobronchial morphology Hyperacusis Delayed eruption of primary teeth Large face Abnormal localization of kidney Taurodontia Impaired pain sensation Hypertriglyceridemia Chronic otitis media Tented upper lip vermilion Renal hypoplasia/aplasia Hypercholesterolemia Hoarse voice Stereotypy Abnormal form of the vertebral bodies Happy demeanor Abnormal pattern of respiration Cerebellar atrophy Narrow forehead Sleep apnea Visual impairment Abnormal palate morphology Abnormal autonomic nervous system physiology Truncal ataxia Aganglionic megacolon Cyanosis Hypopigmented skin patches Convex nasal ridge Full cheeks Hypopigmentation of the skin Small hand Postnatal growth retardation Apnea Mutism Incoordination Thickened helices Acrocyanosis Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Hiatus hernia Short metatarsal Hyperventilation Hodgkin lymphoma Dysphasia Aphasia Overlapping toe Cupped ear Clubbing Muscle flaccidity Long foot Diabetic ketoacidosis Thin upper lip vermilion Focal motor seizures Long palm Asymmetry of the ears Mesoaxial hand polydactyly Triangular mouth Persistence of primary teeth Short middle phalanx of the 5th finger Blindness Prominent occiput Hernia Rod-cone dystrophy Posteriorly rotated ears Hyperactivity Bicuspid aortic valve Coloboma Long hallux Depressed nasal ridge Coarctation of aorta Delayed myelination Focal-onset seizure Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Premature birth Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Focal impaired awareness seizure Hypodontia Facial hypotonia Hypoglycemic seizures No permanent dentition Small earlobe Everted lower lip vermilion Cognitive impairment Osteoporosis Camptodactyly Myoclonus Pectus carinatum Facial asymmetry Abnormality of movement Unsteady gait Bulbous nose Dysarthria Recurrent fractures Postural instability Generalized myoclonic seizures Bifid uvula Webbed neck High myopia Hyperextensibility of the finger joints Muscular ventricular septal defect Parasomnia Epileptic spasms Slender finger Long fingers Disproportionate tall stature Decreased muscle mass Symphalangism of the 5th finger Intellectual disability, profound Spontaneous abortion Mesoaxial foot polydactyly Hyperpigmentation of the skin Distal/middle symphalangism of 5th finger Tall stature Broad-based gait Highly arched eyebrow Macrocephaly Abnormal lip morphology Lipodystrophy Small for gestational age Dry skin Thin vermilion border Hirsutism Limb hypertonia Sepsis Microdontia Epidermal acanthosis Short palpebral fissure Hypertrichosis Insulin resistance Acanthosis nigricans Hyperinsulinemia Progressive microcephaly Clitoral hypertrophy Hypoglycemia Abnormality of the optic nerve Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Fasting hypoglycemia Thick nail Difficulty walking Hyperglycemia Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Ovarian neoplasm Flat occiput Absent eyebrow Blepharophimosis Corpus callosum atrophy Tremor Thickened calvaria Craniosynostosis Cerebellar hypoplasia Neonatal hypotonia Polydactyly Abnormal cardiac septum morphology Poor speech Abnormal cerebellum morphology Intention tremor Clonus Long philtrum Relative macrocephaly Poor suck Patent foramen ovale Hallux valgus Ankylosis Dyspnea Congestive heart failure Respiratory failure Short upper lip Respiratory distress Prominent fingertip pads Laryngotracheomalacia Neoplasm Intellectual disability, mild Mild global developmental delay Deviated nasal septum Increased head circumference Perseveration Speech apraxia Left ventricular noncompaction Right ventricular hypertrophy Corticospinal tract hypoplasia



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