Strabismus, and Brachydactyly

Diseases related with Strabismus and Brachydactyly

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


Top matches:

Low match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Low match CRANIOSYNOSTOSIS 3; CRS3


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

Low match PROXIMAL SYMPHALANGISM


Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

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Other less relevant matches:

Low 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

Low 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

Low match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Low 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

Low match FRONTORHINY


Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Top 5 symptoms//phenotypes associated to Strabismus and Brachydactyly

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Strabismus and Brachydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Low-set, posteriorly rotated ears Cataract Posteriorly rotated ears Thin upper lip vermilion Sensorineural hearing impairment Brachycephaly Iris coloboma Generalized hypotonia Delayed speech and language development Glaucoma Hypermetropia

Rare Symptoms - Less than 30% cases


Autism Abnormal facial shape Low-set ears Thick eyebrow Finger clinodactyly Finger syndactyly Camptodactyly of finger Constipation Feeding difficulties Scoliosis Long philtrum Optic atrophy Wide mouth Anteverted nares Single transverse palmar crease Craniosynostosis Nystagmus Wide nasal bridge Syndactyly Ptosis Cryptorchidism Hearing impairment Small hand Telecanthus Hydrocephalus Hypogonadotrophic hypogonadism Mandibular prognathia Arachnodactyly Carious teeth Cerebral calcification Hand polydactyly Frontal bossing Renal insufficiency Recurrent otitis media Arnold-Chiari malformation Trigonocephaly Broad philtrum Sagittal craniosynostosis Small pituitary gland Ataxia Abnormality of cardiovascular system morphology Neoplasm Obesity Hypoplasia of penis Type II diabetes mellitus Bilateral single transverse palmar creases Melanocytic nevus Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Hemivertebrae Cerebellar atrophy Vertebral fusion Aplasia/Hypoplasia of the corpus callosum Broad columella Wide nasal base Broad distal phalanx of finger Cleft palate Microphthalmia Hypoplasia of the maxilla Lumbar hyperlordosis Encephalocele Preauricular skin tag Diabetes insipidus Corneal dystrophy Hypopituitarism Widow's peak Bifid tongue Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Cranium bifidum occultum Lipoma of corpus callosum Midline nasal groove Congenital hypothyroidism Progressive hearing impairment Abnormality of the neck Short nose Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Visual impairment Motor delay Hypertension Microdontia Intellectual disability, mild Alopecia Broad thumb Rod-cone dystrophy Upslanted palpebral fissure Diabetes mellitus Hypothyroidism High forehead Deeply set eye Sparse hair Broad nasal tip Delayed myelination Short palpebral fissure Sparse scalp hair Attention deficit hyperactivity disorder Otitis media Proximal symphalangism Pes planus Abnormality of the metacarpal bones Elbow dislocation Tarsal synostosis Synostosis of carpal bones Abnormality of the wrist Elbow ankylosis Abnormal finger flexion creases Anterior plagiocephaly Proximal/middle symphalangism of 5th finger Metacarpophalangeal synostosis Growth delay Muscular hypotonia Short neck Blindness Delayed skeletal maturation Reduced visual acuity Clinodactyly of the 5th finger Partial agenesis of the corpus callosum Postnatal growth retardation Anterior synechiae of the anterior chamber Joint stiffness Short palm High myopia Thickened skin Exotropia Ectopia lentis Increased intraocular pressure Mydriasis Hallux valgus Iridodonesis Microspherophakia Retinal hole Phakodonesis Agenesis of corpus callosum Dental malocclusion Low anterior hairline Abnormality of the outer ear Proptosis Facial asymmetry Wide nose Depressed nasal bridge Hyperlordosis Autistic behavior Broad forehead Short foot Small nail Broad-based gait Obsessive-compulsive behavior Downslanted palpebral fissures Gastroesophageal reflux Abnormality of the skeletal system Clinodactyly Abnormal heart morphology Prominent forehead Coarse facial features Feeding difficulties in infancy Abnormal cardiac septum morphology Neurological speech impairment Anxiety Hyperactivity Micromelia Dyschromatopsia Long face Thin vermilion border Progressive visual loss Narrow forehead Fine hair Sandal gap Cutis laxa Achromatopsia Behavioral abnormality Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Pain Fever Atrial septal defect Vomiting Basal encephalocele



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