Microphthalmia, and Toe syndactyly

Diseases related with Microphthalmia and Toe syndactyly

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

Top matches:

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium 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

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Other less relevant matches:

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

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Toe syndactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Blepharophimosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short palpebral fissure Global developmental delay Syndactyly Failure to thrive Finger syndactyly Iris coloboma Microcornea Microcephaly Low-set ears Frontal bossing Talipes equinovarus Strabismus Cleft palate Cryptorchidism Preaxial hand polydactyly Renal hypoplasia Abnormality of cardiovascular system morphology Broad thumb Narrow palpebral fissure Anal stenosis Underdeveloped nasal alae Micrognathia Cleft upper lip Epicanthus Vesicoureteral reflux Clinodactyly of the 5th finger Deeply set eye Broad hallux phalanx High palate Downslanted palpebral fissures Short neck Agenesis of corpus callosum Coloboma Growth delay

Rare Symptoms - Less than 30% cases

Brachycephaly External ear malformation Cupped ear Scoliosis Patent ductus arteriosus Abnormal vagina morphology Abnormal cardiac septum morphology Pes planus Vertebral segmentation defect Dental crowding Sparse scalp hair Seizures Autistic behavior Dental malocclusion Hypoplasia of the maxilla Behavioral abnormality Short foot Sensorineural hearing impairment Depressed nasal bridge Cleft lip Short nose Anophthalmia Low-set, posteriorly rotated ears Hypospadias Conductive hearing impairment Short femur Anal atresia Oral cleft Wide intermamillary distance Ambiguous genitalia Posteriorly rotated ears Sandal gap Polydactyly Horseshoe kidney Hypoplasia of penis Abnormal vertebral morphology Omphalocele Hip dislocation Postnatal growth retardation Talipes Intrauterine growth retardation Narrow mouth Cutaneous syndactyly of toes Hypoplastic scapulae Facial asymmetry Ptosis Nystagmus Hydronephrosis Hydrocephalus Macrocephaly Abnormal facial shape Hearing impairment Crossed fused renal ectopia Foot polydactyly Tetralogy of Fallot Optic nerve coloboma Wide nasal bridge Triphalangeal thumb Long philtrum Chorioretinal coloboma Renal hypoplasia/aplasia Short thumb Truncal obesity Fibular aplasia Wrist flexion contracture Hypoplastic toenails Anonychia Abnormality of the joint spaces of the elbow Rectoperineal fistula Hydranencephaly Absent thumb Microglossia Absent proximal finger flexion creases Ambiguous genitalia, male Redundant neck skin Flexion contracture Stenosis of the external auditory canal Aplasia/Hypoplasia of the eyebrow Hypoplastic ilia Hypoplastic iliac wing Anterior rounding of vertebral bodies Microtia, first degree Humeroradial synostosis Alveolar ridge overgrowth Opacification of the corneal stroma Facial hirsutism Corneal opacity Arthrogryposis multiplex congenita Confusion Small nail Alopecia Abnormality of the genital system Short phalanx of finger 4-5 toe syndactyly Cafe-au-lait spot Hypoplastic pubic bone Mask-like facies Sacral dimple Pterygium Ectropion Mesomelic leg shortening Abnormality of the skull base Ambiguous genitalia, female Hypoplastic ischia Obesity Prominent protruding coccyx Long clavicles Bilateral cryptorchidism Absent eyebrow Sparse or absent eyelashes Multiple cafe-au-lait spots Toe clinodactyly Abnormality of the kidney Hypothyroidism Constipation Renal insufficiency Atrial septal defect Abnormality of the uterus Epibulbar dermoid Ankyloglossia Microtia Abnormal pulmonary valve morphology Interrupted aortic arch Partial duplication of thumb phalanx Truncus arteriosus Transposition of the great arteries High hypermetropia Absent toe Broad hallux Wide mouth Rectovaginal fistula Schizophrenia Ulnar deviation of finger Bowel incontinence Ectopic kidney Anteriorly placed anus Bifid scrotum Overfolded helix Abnormality of vision Arnold-Chiari malformation Cranial nerve paralysis Delayed puberty Spina bifida occulta Multiple renal cysts Spina bifida Preauricular skin tag Subcutaneous nodule Lower limb asymmetry Abnormality of the ribs Abnormality of the foot Hand polydactyly Coarctation of aorta Facial cleft Short sternum Adactyly Unilateral renal hypoplasia Hypoplastic male external genitalia Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Ankyloblepharon Alopecia totalis Dislocated radial head Labial hypoplasia Prominent superficial veins Eyelid coloboma Hypoplastic labia majora Skin tags Absent eyelashes Median cleft lip Aplasia cutis congenita Abnormality of the tragus Oral synechia Sleep disturbance Aggressive behavior Bifid uterus Bulbous nose Urethral valve Joint hypermobility Joint hyperflexibility Attention deficit hyperactivity disorder Intellectual disability, moderate Joint laxity Anxiety Sparse lower eyelashes Autism Hyperactivity Inguinal hernia Depressivity Muscular hypotonia Generalized hypotonia Symblepharon Bilateral cleft palate Bell-shaped thorax Cleft ala nasi Mesomelia Sparse eyelashes Delayed speech and language development Myopia Abnormality of the dentition Clinodactyly Delayed skeletal maturation Telecanthus Thin vermilion border Small hand Delayed eruption of teeth Triangular face Overgrowth Fine hair Large fontanelles Abnormality of dental enamel Abnormality of dental morphology Duplication of thumb phalanx Cranial hyperostosis 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Persistent pupillary membrane Broad long bones Hypoplasia of teeth Hyperostosis Large earlobe Mild global developmental delay Spinal cord compression Narrow nose Basal ganglia calcification Long nose Abnormality of thumb phalanx Hemimegalencephaly Retrognathia Long fingers Bullet-shaped distal phalanx of the hallux Abnormality iris morphology Abnormal oral frenulum morphology Hand clenching Small face Central apnea Interphalangeal joint contracture of finger Carcinoma Arachnodactyly Severe global developmental delay Small for gestational age Short philtrum Camptodactyly of finger Neonatal hypotonia Ventriculomegaly Craniosynostosis Anterior plagiocephaly Preaxial polydactyly Medulloblastoma Chronic constipation Arnold-Chiari type I malformation Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Basal cell carcinoma Bilateral ptosis Polymicrogyria Hypopigmented skin patches Generalized hirsutism Horizontal nystagmus Abnormality of the skin Intestinal malrotation Hirsutism Prominent forehead Single transverse palmar crease 2-3 toe syndactyly Bladder diverticulum Urethral atresia Cryptophthalmos Wide pubic symphysis Lacrimal duct aplasia Midline nasal groove Malformed lacrimal duct Visual impairment Aganglionic megacolon Hypoplasia of the ulna Vertebral fusion Short humerus Aplasia/Hypoplasia of the radius Short hallux Abnormality of the thumb Optic disc hypoplasia Abnormality of the middle ear Abnormality of the pinna Redundant skin Congenital hip dislocation Elbow flexion contracture Joint contracture of the hand Rhizomelia Low posterior hairline Camptodactyly Abnormality of the radius Severe short stature Abnormality of the skeletal system Brachydactyly Renal malrotation Short distal phalanx of the thumb Radial club hand Female pseudohermaphroditism Laryngeal stenosis Postaxial hand polydactyly Fibular hypoplasia Metacarpal synostosis Foot oligodactyly Flared nostrils Hand oligodactyly Abnormal renal morphology Postaxial foot polydactyly Oligodactyly Fused fourth and fifth metacarpals Tibial bowing Deep philtrum Hemivertebrae Abnormality of the hair Split hand Abnormality of the cardiovascular system Camptodactyly of 2nd-5th fingers Blindness Subglottic stenosis Tracheal stenosis Vaginal atresia Bicornuate uterus Abnormal hair pattern Bifid tongue Ectopic anus Calvarial skull defect Myelomeningocele Umbilical hernia Abnormal lung lobation Atresia of the external auditory canal Scrotal hypoplasia Multicystic kidney dysplasia Encephalocele Pulmonary hypoplasia Aplasia/Hypoplasia of the 3rd toe


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