Myopia, and Bulbous nose

Diseases related with Myopia and Bulbous nose

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

High match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

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Other less relevant matches:

High match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


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

High match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


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

High match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

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

High match LAMB-SHAFFER SYNDROME; LAMSHF


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

High match SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME


This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

High match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Bulbous nose

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

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Delayed speech and language development Hypertelorism Prominent nasal bridge Thin upper lip vermilion Ptosis Brachycephaly High palate Depressed nasal bridge Synophrys Short stature Abnormality of the pinna Feeding difficulties Downslanted palpebral fissures Smooth philtrum Broad nasal tip Constipation Thick eyebrow Wide nasal bridge Anteverted nares Absent speech Pes planus High myopia Behavioral abnormality Hypoplasia of the corpus callosum Hearing impairment Disproportionate tall stature Dental crowding Highly arched eyebrow Downturned corners of mouth Abnormal cardiac septum morphology Nystagmus Cryptorchidism Clinodactyly of the 5th finger Microcephaly Epicanthus

Rare Symptoms - Less than 30% cases


Cognitive impairment Posteriorly rotated ears Vesicoureteral reflux Narrow face Midface retrusion Short neck Long fingers Long hallux Abnormality of the skeletal system Retrognathia Renal agenesis Facial asymmetry Anxiety Pectus carinatum Cleft palate Aggressive behavior Kyphoscoliosis Hirsutism Clinodactyly Astigmatism Gait disturbance Ventriculomegaly Tall stature Wide intermamillary distance Long eyelashes Low anterior hairline Slender finger Thin vermilion border Dysarthria Open mouth Wide mouth Muscular hypotonia Short foot Narrow nose Macrotia Camptodactyly Scoliosis Growth delay Prominent forehead Postnatal growth retardation Full cheeks Arachnodactyly Macular hypoplasia Macular dystrophy Toe syndactyly Pulmonary artery stenosis Talipes Syringomyelia Anal atresia Wide nose Anal stenosis Retinal dystrophy Single transverse palmar crease Ectopic kidney Bicuspid aortic valve Spina bifida Clitoral hypertrophy Hypoplasia of the radius Horseshoe kidney Exudative retinal detachment Small for gestational age Peripapillary atrophy Lens luxation Aortic regurgitation Spina bifida occulta Telecanthus Craniosynostosis Ureteral stenosis Optic nerve hypoplasia Overlapping toe Maternal diabetes Abnormal vitreous humor morphology Small face Phthisis bulbi Hyperplasia of the maxilla Lymphangioma Vertebral clefting Thoracic kyphoscoliosis Expressive language delay Mild myopia Joint laxity Hypoplastic helices Band keratopathy Laryngotracheomalacia Severe expressive language delay Intrauterine growth retardation Ventricular septal defect Cerebellar malformation Renal insufficiency Syndactyly Hydronephrosis Rectovaginal fistula Eyelid coloboma Pelvic kidney Bicornuate uterus Retinal detachment Nyctalopia Leukemia Congenital cataract Aplasia cutis congenita Occipital encephalocele Bifid ureter Joint hyperflexibility Retinal degeneration Pointed chin Polymicrogyria Absent septum pellucidum Progressive visual loss Meningocele Chorioretinal atrophy Cortical dysplasia Dextrocardia Thin skin Encephalocele Pachygyria Abnormality of the hair Ectopia lentis Horizontal nystagmus Macular degeneration Corneal dystrophy Acute lymphoblastic leukemia Mental deterioration Labial hypoplasia Visual impairment Peripheral pulmonary artery stenosis Duane anomaly Lop ear Pyloric stenosis 4-5 toe syndactyly Total anomalous pulmonary venous return Mitral atresia Ataxia Cataract Occipital meningocele Aplasia cutis congenita of scalp Motor delay Glaucoma Hydrocephalus Blindness Cerebellar atrophy Cerebral atrophy Visual loss Anomalous pulmonary venous return Large forehead Patent ductus arteriosus Calvarial skull defect Alopecia Vitreoretinopathy Narrow palate Intellectual disability, moderate Exotropia Broad forehead Trigonocephaly Hypoplasia of the brainstem Delayed ability to walk Severe postnatal growth retardation Ulnar deviation of the hand Sensorineural hearing impairment Hyperactivity Coarse facial features Deeply set eye Attention deficit hyperactivity disorder Sleep disturbance Everted lower lip vermilion Agitation Inverted nipples Cerebellar hypoplasia Coloboma Intestinal malrotation Broad thumb Single umbilical artery Volvulus Speech apraxia Cavum septum pellucidum Diastema Short chin Inability to walk Micrognathia Obesity Atrial septal defect Hernia Hypospadias Inguinal hernia Dolichocephaly Supernumerary nipple Prominent metopic ridge Low hanging columella Square face Macrocephaly Abnormality of cardiovascular system morphology Autism Severe global developmental delay EEG abnormality Autistic behavior Short palm Tapered finger Round face Microretrognathia Polyphagia Misalignment of teeth Failure to thrive Short nose Upslanted palpebral fissure Unilateral cryptorchidism Brachydactyly Stereotypy Hyperextensibility of the finger joints Intellectual disability, profound Thick lower lip vermilion Broad-based gait Hyperpigmentation of the skin Spontaneous abortion Nasal speech Sparse eyebrow Decreased muscle mass Epileptic spasms Slender build Small earlobe Bifid uvula Narrow palm Focal motor seizures Long palm Asymmetry of the ears Optic atrophy Frontal bossing High forehead Hyperlordosis Lumbar hyperlordosis Mitral regurgitation Clumsiness Webbed neck Generalized myoclonic seizures Abnormality of the dentition Limited elbow movement Long philtrum Gastroesophageal reflux Feeding difficulties in infancy Pulmonic stenosis Poor speech Small hand Hypertrichosis Finger clinodactyly Proximal placement of thumb Cutis marmorata Thick hair Talipes equinovarus Postural instability Pectus excavatum Myoclonus Osteoporosis Narrow mouth Mandibular prognathia Difficulty walking Short philtrum Abnormality of movement Unsteady gait High, narrow palate Recurrent fractures Cephalocele



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