Microphthalmia, and Wide intermamillary distance

Diseases related with Microphthalmia and Wide intermamillary distance

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

Top matches:

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

High 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

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

Other less relevant matches:

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

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). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

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

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Top 5 symptoms//phenotypes associated to Microphthalmia and Wide intermamillary distance

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Wide intermamillary distance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Hypospadias Growth delay Depressed nasal bridge Posteriorly rotated ears Hypoplasia of the corpus callosum Abnormality of the pinna Blepharophimosis Microcornea Abnormality of cardiovascular system morphology Syndactyly High palate Renal hypoplasia Finger syndactyly Low-set, posteriorly rotated ears Abnormal facial shape Cleft upper lip Upslanted palpebral fissure Cleft palate Delayed speech and language development Wide nasal bridge Short neck Anophthalmia Underdeveloped nasal alae Ambiguous genitalia Aplasia cutis congenita Dental crowding Long philtrum Short nose External ear malformation Anal stenosis Visual impairment Flexion contracture Scoliosis Nystagmus Abnormal heart morphology Narrow palpebral fissure Muscular hypotonia of the trunk Deeply set eye Hypertonia Pulmonary hypoplasia Anal atresia Oral cleft Overfolded helix Motor delay Epicanthus Pectus excavatum Narrow mouth Renal hypoplasia/aplasia Telecanthus Short palpebral fissure Scrotal hypoplasia High forehead Toe syndactyly Blindness

Rare Symptoms - Less than 30% cases

Arthrogryposis multiplex congenita Strabismus Micropenis Brachycephaly Absent eyelashes Cupped ear Absent eyebrow Hydrocephalus Adactyly Failure to thrive Small nail Bilateral cryptorchidism Facial cleft Joint contracture of the hand Renal agenesis Delayed myelination Intrauterine growth retardation Wide nose Thin vermilion border Ventriculomegaly Camptodactyly Congenital cataract Kyphoscoliosis Agenesis of corpus callosum Cerebellar hypoplasia Kyphosis Intellectual disability, severe Gliosis Alopecia Cleft lip Cataract Dilatation Corneal opacity Ankyloblepharon Full cheeks Short foot Oligohydramnios Macrotia Conductive hearing impairment Cryptophthalmos Malformed lacrimal duct Myelomeningocele Midline nasal groove Short palm Wide pubic symphysis Cleft ala nasi Urethral atresia Calvarial skull defect Laryngeal stenosis Umbilical hernia Atresia of the external auditory canal Subglottic stenosis Encephalocele Omphalocele Flat face Lacrimal duct aplasia Dental malocclusion Vaginal atresia Microtia Clinodactyly Pes planus Midface retrusion Hernia Bicornuate uterus Talipes equinovarus Depressivity Cerebral palsy Protruding ear Cerebral atrophy Polymicrogyria Low anterior hairline Bulbous nose Misalignment of teeth Abnormality of the nervous system Self-mutilation Lymphedema Short distal phalanx of finger Short clavicles Sclerocornea Wide anterior fontanel Down-sloping shoulders Blue sclerae Single transverse palmar crease Hydroureter Optic nerve coloboma Abnormality of the clavicle Agenesis of permanent teeth Retinal detachment Self-injurious behavior Optic atrophy Long thorax Multiple cafe-au-lait spots Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Median cleft lip Complete duplication of thumb phalanx Skin tags Hypoplastic labia majora Hypoplastic scapulae Eyelid coloboma Prominent superficial veins Labial hypoplasia Alopecia totalis Short sternum Sparse or absent eyelashes Abnormality of the shoulder Macrocephaly Rectal prolapse Popliteal pterygium Shield chest Aplasia/Hypoplasia of the distal phalanges of the toes Synostosis of joints Hypoplastic male external genitalia Unilateral renal hypoplasia Cutis marmorata Oral synechia Sparse lower eyelashes Bilateral cleft palate Symblepharon Spasticity Brachydactyly Dermal atrophy High-pitched cry Short finger Aggressive behavior Camptodactyly of finger Coloboma Autistic behavior Radial deviation of finger Spastic diplegia Hyperlordosis Hydronephrosis Neurological speech impairment Autism Glaucoma Clinodactyly of the 5th finger Abnormality of the dentition Abnormality of the skeletal system Ptosis Truncal obesity Narrow chest Aplasia/Hypoplasia of the sternum Recurrent otitis media Chorioretinal coloboma Bicuspid aortic valve Aplasia/Hypoplasia of the corpus callosum Muscle stiffness Preauricular skin tag Aganglionic megacolon Lumbar hyperlordosis Iris coloboma Webbed neck Brain atrophy Delayed eruption of teeth Clubbing Proximal placement of thumb Abnormality of dental morphology High, narrow palate Abnormality of the umbilicus Extension of hair growth on temples to lateral eyebrow Corpus callosum atrophy Polydactyly Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Clitoral hypertrophy Abnormality of the urinary system Cutaneous syndactyly Postaxial polydactyly Retinal nonattachment Foot polydactyly Cutis marmorata telangiectatica congenita Pyloric stenosis Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Periventricular leukomalacia Gonadal dysgenesis Postaxial foot polydactyly Laryngeal atresia Difficulty in tongue movements Abnormality of the small intestine Severe T-cell immunodeficiency Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Abnormality of the nares Choanal stenosis Abnormality of the thymus Upper eyelid coloboma Abnormality of the anus Bilateral renal agenesis Bilateral microphthalmos Gonadoblastoma Abnormal cortical gyration Absent thumb Hyperreflexia Aplasia/Hypoplasia of the eyebrow Broad face Anteverted nares Malar flattening Absent speech Joint laxity Smooth philtrum Everted lower lip vermilion Widely spaced teeth Infantile muscular hypotonia Flat occiput Multiple lipomas Broad palm Broad foot Pendular nystagmus High anterior hairline Deep palmar crease Ureteral duplication Hypoplastic areola Retinopathy Inguinal hernia Intellectual disability, mild Congestive heart failure Edema Unilateral narrow palpebral fissure Prominent median palatal raphe Broad philtrum Abnormal peripheral nervous system morphology Small scrotum Wide nasal ridge Large fleshy ears Long upper lip Deep plantar creases Feeding difficulties Erythroderma Nevus Abnormal hair pattern Downslanted palpebral fissures Osteopenia Carious teeth Tapered finger Microdontia Broad neck Ureterocele Hypoplasia of penis Multicystic kidney dysplasia Vertebral segmentation defect Abnormal lung lobation Tracheal stenosis Ectopic anus Bifid tongue Abnormal vagina morphology Sandal gap Tetralogy of Fallot Short chin Spontaneous abortion Pulmonary arterial hypertension Ventricular hypertrophy Congenital diaphragmatic hernia Optic disc pallor Highly arched eyebrow Abnormality of the middle ear Retrognathia Hyperactivity Atrial septal defect Myopia Hypertension Female pseudohermaphroditism Severe global developmental delay Abnormality of the skin Anonychia Deep longitudinal plantar crease Cerebral calcification Sloping forehead Intellectual disability, profound Cutaneous photosensitivity Insulin resistance Elbow flexion contracture Coxa valga Knee flexion contracture Congenital muscular dystrophy Rocker bottom foot Abnormality of the ear Osteopetrosis Miosis Long ear Second metatarsal posteriorly placed Neuronal loss in central nervous system Short thumb Hypoplastic toenails Mask-like facies Ectropion Pterygium Sacral dimple Opacification of the corneal stroma Cafe-au-lait spot Obesity Short phalanx of finger Abnormality of the genital system Sparse scalp hair Hypoplasia of the maxilla Confusion Talipes Peripheral demyelination Prominent nose Febrile seizures Neuroblastoma Dandy-Walker malformation Hypertrichosis Abnormality of the face Hypoplasia of dental enamel Thickened skin Generalized hirsutism Cutis laxa Optic nerve hypoplasia Tricuspid regurgitation Overlapping toe Long fingers Abnormality of the musculature Cerebellar vermis atrophy Hamartoma Hypoplastic nipples Neurodegeneration Localized neuroblastoma Hirsutism Muscular dystrophy Prominent nasal bridge Osteoporosis Muscular hypotonia Sensorineural hearing impairment Increased number of skin folds Irregular hyperpigmentation Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry Ciliary body coloboma


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