Microphthalmia, and Thin upper lip vermilion

Diseases related with Microphthalmia and Thin upper lip vermilion

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


Top matches:

High match OCULOTRICHOANAL SYNDROME


Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

High match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match BARAITSER-WINTER SYNDROME 2; BRWS2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

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Other less relevant matches:

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

High match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

High match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

High match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

High match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

High match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Top 5 symptoms//phenotypes associated to Microphthalmia and Thin upper lip vermilion

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and Thin upper lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Ptosis Abnormal heart morphology Generalized hypotonia Growth delay Intellectual disability, severe Coloboma Low-set ears Cleft lip Atrial septal defect Delayed speech and language development Posteriorly rotated ears Macrotia Oral cleft Protruding ear Frontal bossing Iris coloboma Intrauterine growth retardation Sensorineural hearing impairment Cryptorchidism Failure to thrive Short nose Cataract Webbed neck Mandibular prognathia Joint stiffness Wide mouth Wide nose Muscular hypotonia Pointed chin Trigonocephaly Depressed nasal bridge Hypoplasia of the corpus callosum Anteverted nares Severe short stature Micropenis Postnatal growth retardation Ventriculomegaly Hyperactivity Cleft palate Feeding difficulties Corneal opacity Short philtrum High forehead Narrow mouth Intellectual disability, mild Everted lower lip vermilion Bulbous nose Clinodactyly of the 5th finger Short neck Abnormality of the dentition Broad forehead Prominent nose Highly arched eyebrow Upslanted palpebral fissure Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Patent ductus arteriosus Blindness Anteverted ears Spasticity Myopia Downslanted palpebral fissures Edema Delayed myelination Long face Aortic valve stenosis Bifid uvula Lymphoma Astigmatism Small for gestational age Broad columella Muscular hypotonia of the trunk Prominent forehead Chorioretinal coloboma Smooth philtrum Narrow face Amblyopia Cognitive impairment Ventricular septal defect Hernia Clinodactyly Brachycephaly Camptodactyly Abnormality of the outer ear Prominent nasal bridge Brachydactyly Patent foramen ovale Midface retrusion Single transverse palmar crease Microtia Nasal speech Joint laxity Deep philtrum Motor delay Aggressive behavior Hypoplasia of the maxilla Thin vermilion border Macrocephaly Abnormality of the pinna Heterotopia Pachygyria Behavioral abnormality Depressed nasal tip Hypotelorism Hypospadias Broad face Leukemia Lissencephaly Retrognathia Anophthalmia Pectus excavatum Bilateral ptosis Hypermetropia Anxiety Thick vermilion border Postnatal microcephaly Arthrogryposis multiplex congenita Long palpebral fissure Attention deficit hyperactivity disorder Flat occiput Omphalocele Holoprosencephaly Broad nasal tip Retinal coloboma Abnormality of the hair Retinal thinning Abnormal nasolacrimal system morphology Erysipelas Pectus carinatum Inguinal hernia Panniculitis Bipolar affective disorder Shallow orbits Gait ataxia Subvalvular aortic stenosis Autism Six lumbar vertebrae Strabismus Depressivity Scoliosis Ataxia Chorioretinal lacunae Gastroesophageal reflux Intellectual disability, moderate Prominent nasal tip Sandal gap Joint hyperflexibility Abnormality of skin pigmentation Gait disturbance Tapered finger Psychosis Pulmonary arterial hypertension Exudative vitreoretinopathy Dental crowding Stereotypy Anorexia Facial asymmetry Horseshoe kidney Aspiration Congenital microcephaly Retinal fold Chylothorax Chorioretinal dysplasia Leukonychia Myopic astigmatism Melanonychia Pulmonic stenosis Hypertension Respiratory tract infection Heterotaxy Hyperreflexia Coarse facial features Hypertrichosis Short palpebral fissure Low posterior hairline High myopia Cleft upper lip Feeding difficulties in infancy Conductive hearing impairment Weight loss Hoarse voice Cerebral cortical atrophy Abnormality of metabolism/homeostasis Dilatation Dystonia Abnormality of the skeletal system Flexion contracture Abnormal hair laboratory examination Low anterior hairline Spontaneous abortion Narrow foot Widow's peak Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Acute lymphoblastic leukemia Bicuspid aortic valve Inverted nipples Esophageal atresia Protruding tongue Abnormality of the sternum Tracheoesophageal fistula Overfolded helix Ectropion Redundant skin Decreased head circumference Round ear Skeletal muscle atrophy Paraplegia Abnormality of the ribs Tetralogy of Fallot Decreased testicular size Triangular face High, narrow palate Arachnodactyly Anal atresia Spastic paraplegia Joint contracture of the hand Sparse hair Abnormality of the nervous system Diabetes mellitus Pes cavus Alopecia Cerebral atrophy Malar flattening Renal hypoplasia Situs inversus totalis Phimosis Sparse lateral eyebrow Moderately short stature Macrodontia Thin eyebrow Abnormal toenail morphology Abnormality of the rib cage Small face Abnormality of the thumb Ankylosis Cachexia Sprengel anomaly Prominent metopic ridge High hypermetropia Spastic diplegia Mild short stature Cupped ear Failure to thrive in infancy Poor suck Retinal dysplasia Abnormal dermatoglyphics Vitreoretinopathy Spinal canal stenosis Recurrent respiratory infections Hypogonadism Deeply set eye Low-set, posteriorly rotated ears Short palm Small hand Short foot Growth hormone deficiency Convex nasal ridge Hypoplasia of penis Hypocalcemia Recurrent bacterial infections Abnormality of dental enamel Intestinal obstruction External ear malformation Myopathy Congenital hypoparathyroidism Blepharophimosis Proteinuria Hypothyroidism Cardiomyopathy Talipes equinovarus Patchy osteosclerosis Hypocalcemic seizures Severe intrauterine growth retardation Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism Delayed skeletal maturation Telecanthus Talipes Hydrocephalus Ectodermal dysplasia Renal agenesis Amenorrhea Primary amenorrhea Anteriorly placed anus Anal stenosis Eyelid coloboma Abnormal hair pattern Bifid nasal tip Vaginal atresia Nasolacrimal duct obstruction Upper eyelid coloboma Cryptophthalmos Ablepharon Dental malocclusion Flat nasal alae Midline defect of the nose Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Alobar holoprosencephaly Semilobar holoprosencephaly Parietal bossing Single median maxillary incisor Partial agenesis of the corpus callosum Median cleft lip and palate Bilateral microphthalmos Panhypopituitarism Bilateral cleft lip and palate Bilateral cleft lip Median cleft lip Dilated cardiomyopathy Microdontia Gangrene Status epilepticus Rigidity Neonatal hypotonia Retinopathy Dry skin Retinal dystrophy Retinal detachment Sleep disturbance Microcornea Full cheeks Specific learning disability Overgrowth Pigmentary retinopathy Sloping forehead Bilateral sensorineural hearing impairment Thick lower lip vermilion Glaucoma Scaling skin Abnormal eyelash morphology Underdeveloped supraorbital ridges Cellulitis Chorioretinal atrophy Cortical gyral simplification Agitation Optic nerve hypoplasia Subcutaneous nodule Venous thrombosis Muscle stiffness Skin ulcer Lymphedema Abnormality of retinal pigmentation Thickened skin Reduced visual acuity Visual loss Recurrent otitis media Hydronephrosis Macular degeneration Torticollis Widely spaced teeth Scrotal hypoplasia Heart murmur Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Patellar hypoplasia Epicanthus inversus Abnormal palmar dermatoglyphics Neonatal asphyxia Multiple bladder diverticula Abnormality of cardiovascular system morphology Finger syndactyly Hypertonia Aplasia/Hypoplasia of the thumb Optic atrophy Nystagmus Leukocoria Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Absent septum pellucidum Hip dislocation Supernumerary nipple Finger clinodactyly Wide anterior fontanel Open mouth Thick eyebrow Dolichocephaly Small posterior fossa



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