Microphthalmia, and Blepharophimosis

Diseases related with Microphthalmia and Blepharophimosis

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

Top matches:

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

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Other less relevant matches:

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

High match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013).For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Blepharophimosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears Generalized hypotonia Microcornea Abnormal facial shape Micrognathia Nystagmus Hypoplasia of the corpus callosum Epicanthus Low-set ears Hypertelorism Cryptorchidism Intrauterine growth retardation Brachycephaly Hearing impairment Delayed speech and language development Wide nasal bridge Downslanted palpebral fissures Postnatal growth retardation Low-set, posteriorly rotated ears Upslanted palpebral fissure Abnormal heart morphology Strabismus Feeding difficulties Seizures Camptodactyly Failure to thrive Anteverted nares Hip dislocation Flexion contracture Depressed nasal bridge Short nose Narrow palpebral fissure Ventriculomegaly Polymicrogyria

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Optic atrophy Frontal bossing Horseshoe kidney Rocker bottom foot Cataract Ventricular septal defect Short palm Intellectual disability, profound Wide intermamillary distance Hypoplasia of the uterus Scrotal hypoplasia Short palpebral fissure Syndactyly Low anterior hairline High palate Ptosis Toe syndactyly Abnormality of the hair Hernia Telecanthus Bilateral microphthalmos Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Anophthalmia Intestinal malrotation Vesicoureteral reflux Hypertonia Prominent nasal bridge Micropenis Macrotia Cleft palate Polydactyly Carcinoma Deeply set eye Narrow palate Duodenal stenosis Coloboma Short neck Abnormality of the genital system Midface retrusion Hypospadias Muscular hypotonia of the trunk Respiratory failure Hypoplastic labia minora Shallow anterior chamber Postnatal microcephaly Decreased testicular size Clitoral hypoplasia Spastic tetraplegia Spastic diplegia Ankle clonus External genital hypoplasia Cortical dysplasia Hypertrichosis Labial hypoplasia Foot polydactyly Generalized myoclonic seizures Long upper lip Full cheeks Widely spaced teeth Infantile muscular hypotonia Flat occiput Multiple lipomas Broad palm Broad foot Pendular nystagmus High anterior hairline Broad face Deep palmar crease Broad philtrum Deep plantar creases Large fleshy ears Tetraplegia Wide nasal ridge Small scrotum Abnormal peripheral nervous system morphology Prominent median palatal raphe Hypoplastic areola Unilateral narrow palpebral fissure Peripheral neuropathy Intellectual disability, severe Clinodactyly of the 5th finger Hypogonadism Cerebral cortical atrophy Congenital cataract Peripheral axonal neuropathy Downturned corners of mouth Frontoparietal polymicrogyria Short philtrum Hyperreflexia Bicornuate uterus Pulmonic stenosis Pulmonary hypoplasia Tetralogy of Fallot Bilateral sensorineural hearing impairment Coarctation of aorta Renal hypoplasia Abnormal lung morphology Abnormality of the genitourinary system Optic nerve hypoplasia Hiatus hernia Truncus arteriosus Pulmonary artery atresia Abnormality of the uterus Diaphragmatic eventration Protruding ear Abnormality of the diaphragm Annular pancreas Overriding aorta Single ventricle Pelvic kidney Renal malrotation Pulmonary artery hypoplasia Bilateral lung agenesis Right aortic arch with mirror image branching Mild intrauterine growth retardation Aplasia/Hypoplasia of the pancreas Hypoplastic spleen Hypoplastic left atrium Abnormal spleen morphology Pectus carinatum Abnormality of the kidney Abnormality of the skeletal system Flared metaphysis Pneumonia Cerebellar hypoplasia EEG abnormality Abnormality of the nervous system Retinopathy Camptodactyly of finger Everted lower lip vermilion Arthrogryposis multiplex congenita Joint contracture of the hand Congenital hip dislocation Knee flexion contracture Adducted thumb Failure to thrive in infancy Brisk reflexes Hydronephrosis Cortical gyral simplification Slender long bone Dislocated radial head Wrist flexion contracture Flexion contracture of toe Premature closure of fontanelles Muscular hypotonia Respiratory insufficiency Respiratory distress Atrial septal defect Abnormality of cardiovascular system morphology Patent ductus arteriosus Inguinal hernia Severe short stature Short foot Short femur Wide nose Amenorrhea Tapered finger Microdontia Overfolded helix Broad neck Ureterocele Hirsutism Facial asymmetry Myopia Finger syndactyly Hypermetropia Synophrys Infertility Narrow forehead Carious teeth Primary amenorrhea Holoprosencephaly Premature ovarian insufficiency Cupped ear Short finger Increased circulating gonadotropin level Congenital ptosis Epicanthus inversus Unilateral ptosis Female infertility Premature atrial contractions Abnormality of the breast Flat face Microtia Neoplasm Preaxial hand polydactyly Chronic constipation Optic nerve coloboma Medulloblastoma Anterior plagiocephaly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Anal stenosis Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Basal cell carcinoma Preaxial polydactyly Abnormality of the pinna Bilateral ptosis Hypopigmented skin patches Motor delay Generalized hirsutism Horizontal nystagmus Broad thumb Pectus excavatum Abnormality of the skin Narrow mouth Osteopenia Pes planus Iris coloboma Abnormal lacrimal duct morphology Craniosynostosis Thin vermilion border Arnold-Chiari type I malformation Single transverse palmar crease Postaxial hand polydactyly Abnormality of the cardiovascular system Split hand Abnormal vertebral morphology Hemivertebrae Sandal gap Deep philtrum Tibial bowing Oligodactyly Fibular hypoplasia Postaxial foot polydactyly Abnormal renal morphology Cleft lip Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Scoliosis Malar flattening Absent speech High forehead Joint laxity Smooth philtrum Cleft upper lip Retrognathia Anemia Chromosome breakage Clinodactyly Coarse facial features Conductive hearing impairment Sparse hair Agenesis of corpus callosum Hypopigmentation of the skin Dental malocclusion Long eyelashes Bone marrow hypocellularity Breast carcinoma Proximal placement of thumb Ovarian neoplasm Thick upper lip vermilion Prominent forehead Stomach cancer Macrodontia Ovarian carcinoma Visual impairment Dysarthria Behavioral abnormality Autism Gastroesophageal reflux Autistic behavior Cerebral visual impairment Broad eyebrow Talipes equinovarus Agenesis of pulmonary vessels


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