Myopia, and Posteriorly rotated ears

Diseases related with Myopia and Posteriorly rotated ears

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


Top matches:

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


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

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

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Other less relevant matches:

Medium 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

Medium 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

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


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

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Medium match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Top 5 symptoms//phenotypes associated to Myopia and Posteriorly rotated ears

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Posteriorly rotated ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Strabismus Generalized hypotonia High forehead Thin upper lip vermilion Hyperactivity Brachydactyly Upslanted palpebral fissure Low-set, posteriorly rotated ears Seizures Low-set ears Downslanted palpebral fissures Short neck Kyphosis Hyperlordosis High palate Feeding difficulties Anteverted nares Visual impairment Anxiety Constipation Hearing impairment Joint laxity Attention deficit hyperactivity disorder Microcephaly Pes planus Broad forehead Atrial septal defect Coarse facial features

Rare Symptoms - Less than 30% cases


Long face Micrognathia Lumbar hyperlordosis Kyphoscoliosis Mandibular prognathia High myopia Deeply set eye Talipes equinovarus Prominent nasal bridge Astigmatism Cleft palate Cryptorchidism Macrotia Cataract Cerebellar atrophy Photophobia Abnormality of the skeletal system Sensorineural hearing impairment Scoliosis Hypoplasia of the corpus callosum Midface retrusion Prominent forehead Microphthalmia Small hand Obsessive-compulsive behavior Autistic behavior Hypertension Short nose Narrow mouth Pain Nystagmus Telecanthus Behavioral abnormality Autism Long philtrum Sparse eyebrow Delayed myelination Ptosis Sparse hair Proptosis Broad nasal tip Hypothyroidism Macrocephaly Optic disc pallor Congenital diaphragmatic hernia Spontaneous abortion Ventricular hypertrophy Broad distal phalanx of finger Wide nasal base Pulmonary arterial hypertension Epicanthus Tetralogy of Fallot Flexion contracture Retrognathia Renal agenesis Toe walking Otitis media Recurrent otitis media Joint hypermobility Sandal gap Hoarse voice Microtia Blepharophimosis Pointed chin Hyperventilation Diarrhea Microtia, first degree Tall chin Craniosynostosis Growth delay Hernia Clinodactyly Hypertrichosis Highly arched eyebrow Wide intermamillary distance Short chin Bilateral single transverse palmar creases Erythroderma Optic nerve hypoplasia Agenesis of corpus callosum Micropenis Scarring Coloboma Retinopathy Retinal dystrophy Microcornea Hypoplasia of the maxilla Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Anophthalmia Respiratory distress Short middle phalanx of finger Posterior embryotoxon Microglossia Hypoplasia of the fovea Retinal dysplasia Central hypothyroidism Ectopic posterior pituitary Mandibular aplasia Macular scar Proboscis Aglossia Intellectual disability, severe Respiratory insufficiency Aplasia cutis congenita Convex nasal ridge Ureteral duplication Anemia Wide nasal bridge Intrauterine growth retardation Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Joint stiffness Severe global developmental delay Congenital cataract Anal atresia Webbed neck Hypoplasia of penis Pulverulent cataract Congenital hypothyroidism Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Broad columella Abnormal cerebellum morphology Corneal dystrophy Limited elbow extension Genu valgum Limitation of joint mobility Short metacarpal Limb undergrowth Decreased body weight Short phalanx of finger Rhizomelia Short metatarsal Metaphyseal irregularity Hypoplasia of the odontoid process Pectus carinatum Barrel-shaped chest Hypoplastic pelvis Disproportionate short-trunk short stature Myelopathy Broad femoral neck Thoracolumbar kyphosis Flattened epiphysis Broad phalanx Broad metatarsal Arthralgia of the hip Platyspondyly Arthralgia Small forehead Absent eyebrow Peripheral neuropathy Cardiomyopathy Hyperkeratosis Pulmonic stenosis Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Curly hair Severe short stature Arthropathy Neuropathic arthropathy Fever Vomiting Gastroesophageal reflux Wide mouth Hypermetropia Short foot Small nail Broad-based gait Atlantoaxial instability Flattened femoral head Progressive hearing impairment Expressive language delay Tall stature Large hands Disproportionate tall stature Long fingers Megalencephaly Long foot Communicating hydrocephalus Slender build Metopic synostosis Long neck Triangular face Thick corpus callosum Severe expressive language delay Motor delay Intellectual disability, mild Alopecia Rod-cone dystrophy Diabetes mellitus Glaucoma Short palpebral fissure Broad thumb Overgrowth Arachnodactyly Depressed nasal bridge Agitation Brachycephaly Aggressive behavior Abnormality of the pinna Synophrys Bulbous nose Thick eyebrow Hirsutism Downturned corners of mouth Sleep disturbance Full cheeks Inverted nipples Difficulty walking Ataxia Cognitive impairment Frontal bossing Ventriculomegaly Hydrocephalus Malar flattening Absent speech Cerebellar hypoplasia Cerebral cortical atrophy Gait ataxia Myopic astigmatism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Cryptorchidism and Unsteady gait, related diseases and genetic alterations Cognitive impairment and Syndactyly, related diseases and genetic alterations Micrognathia and Pes cavus, related diseases and genetic alterations Nystagmus and Small nail, related diseases and genetic alterations Hearing impairment and Triangular face, related diseases and genetic alterations Motor delay and Generalized myoclonic seizures, related diseases and genetic alterations Leukemia and Scarring, related diseases and genetic alterations

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