Microphthalmia, and Polydactyly

Diseases related with Microphthalmia and Polydactyly

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


Top matches:

Low match MICROPHTHALMIA, ISOLATED 4; MCOP4


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Postaxial polydactyly
  • Absent testis


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 4; MCOP4

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Low match MECKEL SYNDROME, TYPE 5; MKS5


Related symptoms:

  • Cleft palate
  • Microphthalmia
  • Polydactyly
  • Cleft lip
  • Abnormality of the kidney


SOURCES: MESH OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 5; MKS5

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Other less relevant matches:

Low match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Low match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Low match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Low match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Low match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Top 5 symptoms//phenotypes associated to Microphthalmia and Polydactyly

Symptoms // Phenotype % cases
Postaxial hand polydactyly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Coloboma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microphthalmia and Polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Intrauterine growth retardation Anencephaly Occipital encephalocele Encephalocele Hydrocephalus Global developmental delay Bile duct proliferation Agenesis of corpus callosum Bowing of the long bones Renal cyst Renal dysplasia Growth delay Iris coloboma Renal hypoplasia

Rare Symptoms - Less than 30% cases


Deeply set eye Intestinal malrotation Microcornea Optic nerve hypoplasia Intellectual disability Ptosis Cryptorchidism Micrognathia Abnormality of the pinna Hypertelorism Cataract Preaxial polydactyly Anophthalmia Meningocele Postaxial foot polydactyly Syndactyly Molar tooth sign on MRI Meningoencephalocele Abnormality of the kidney Dandy-Walker malformation Foot polydactyly Cleft lip Cleft upper lip Horizontal nystagmus Generalized hirsutism Narrow palpebral fissure Sex reversal Hypopigmented skin patches Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Bilateral ptosis Broad thumb Retinal vascular tortuosity Anal stenosis Abnormality of the skin Bilateral renal hypoplasia Hirsutism Polymicrogyria Facial asymmetry Toe syndactyly Finger syndactyly Hypoplastic iris stroma Jejunal atresia Cutaneous finger syndactyly Optic nerve coloboma Arnold-Chiari type I malformation Wide mouth Ectopia pupillae Intestinal atresia Duodenal atresia Sclerocornea Short columella Short palpebral fissure Cerebellar vermis hypoplasia Prominent nose Astigmatism Malabsorption Craniosynostosis Prominent nasal bridge Hydronephrosis Chronic constipation Cerebellar hypoplasia Myopathy Accessory spleen Wide nasal bridge Cognitive impairment Abnormality of thumb phalanx Duplication of thumb phalanx Hemimegalencephaly Cutaneous syndactyly of toes Anterior plagiocephaly Medulloblastoma Peters anomaly Blepharophimosis Alopecia Carcinoma Narrow chest Low-set, posteriorly rotated ears Retrognathia Polyhydramnios Abnormality of cardiovascular system morphology Equinovarus deformity Hyperechogenic kidneys Enlarged kidney Pericardial effusion Polycystic kidney dysplasia Depressed nasal ridge Abdominal distention Broad forehead Bifid uvula Short nose Short neck Talipes equinovarus Agenesis of cerebellar vermis Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Abnormality of the urinary system Undetectable electroretinogram Retinal dysplasia Abnormal facial shape Absent testis Micromelia Premature birth Brachycephaly Hypotrichosis Ventriculomegaly Nystagmus Hypoplasia of the bladder Abnormality of brain morphology Plagiocephaly Hemivertebrae Aganglionic megacolon Decreased testicular size Convex nasal ridge Vesicoureteral reflux Ichthyosis Protruding ear Laryngomalacia Intellectual disability, severe Scoliosis Hearing impairment Gingival cleft Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Unilateral cleft lip Arrhinencephaly Abnormality of the respiratory system Submucous cleft hard palate Absent septum pellucidum Corneal astigmatism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Polydactyly, related diseases and genetic alterations

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