Microphthalmia, and Thin vermilion border

Diseases related with Microphthalmia and Thin vermilion border

In the following list you will find some of the most common rare diseases related to Microphthalmia and Thin vermilion border 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 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


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

High match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

High match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

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

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 NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

High match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


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

Top 5 symptoms//phenotypes associated to Microphthalmia and Thin vermilion border

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly 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 vermilion border. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Short stature Long philtrum Failure to thrive Deeply set eye Abnormal facial shape Cataract Cryptorchidism Micrognathia Macrotia Thin upper lip vermilion Generalized hypotonia Nystagmus Osteoporosis Frontal bossing Ventriculomegaly Growth delay Midface retrusion Low-set ears Delayed skeletal maturation Scoliosis Hypertonia Corneal opacity Flat occiput Agenesis of corpus callosum Hypoplasia of the maxilla Short foot Telecanthus Muscular hypotonia of the trunk High forehead Short neck Posteriorly rotated ears Hypotelorism

Rare Symptoms - Less than 30% cases


Arthrogryposis multiplex congenita Wide nose Delayed speech and language development Webbed neck Abnormality of the dentition Brachycephaly Malar flattening Micropenis Myopia Small hand Retrognathia Narrow nose Delayed eruption of teeth Muscular hypotonia Retinal detachment Delayed myelination Congenital cataract High palate Visual loss Kyphosis Visual impairment Spasticity Muscle weakness Cachexia Aplasia/Hypoplasia of the lens Wide intermamillary distance Depressed nasal bridge Hyperreflexia Intellectual disability, severe Prominent nasal bridge Osteopenia Flexion contracture Hypoplasia of the corpus callosum Long nose Intellectual disability, profound Abnormality of dental enamel Fine hair Kyphoscoliosis Microcornea Short palm Broad face Brachydactyly Anteverted nares Short nose Upslanted palpebral fissure Cleft lip Protruding ear Smooth philtrum Oral cleft Omphalocele Highly arched eyebrow Prominent nose Dental malocclusion Epicanthus Coloboma Wide nasal bridge Narrow mouth Pendular nystagmus Cerebral calcification Sloping forehead Cutaneous photosensitivity Spinal canal stenosis Intestinal obstruction Recurrent bacterial infections Insulin resistance Joint contracture of the hand Elbow flexion contracture Hypocalcemia Hypoplasia of penis Deep longitudinal plantar crease Convex nasal ridge Peripheral demyelination Widely spaced teeth Long ear Neuronal loss in central nervous system External ear malformation Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Narrow palpebral fissure Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Hypocalcemic seizures Congenital hypoparathyroidism Patchy osteosclerosis Growth hormone deficiency Coxa valga High anterior hairline Rocker bottom foot Deep palmar crease Broad philtrum Deep plantar creases Long upper lip Large fleshy ears Wide nasal ridge Small scrotum Abnormal peripheral nervous system morphology Osteopetrosis Prominent median palatal raphe Hypoplastic areola Unilateral narrow palpebral fissure Abnormality of the ear Intrauterine growth retardation Myopathy Knee flexion contracture Postnatal growth retardation Infantile muscular hypotonia Congenital muscular dystrophy Bifid uvula Miosis Astigmatism Neoplasm Low-set, posteriorly rotated ears Recurrent respiratory infections Hypogonadism Multiple lipomas Broad palm Broad foot Prominent forehead Severe short stature Small for gestational age Retinal fold Gliosis Abnormal cochlea morphology Posterior synechiae of the anterior chamber Abnormal vitreous humor morphology Corneal degeneration Abnormality of the diencephalon Retinopathy of prematurity Abnormality of immune system physiology Narrow nasal bridge Hypoplasia of the iris Abnormal retinal morphology Uterine rupture Neoplasm of the eye Anterior chamber synechiae Aplasia/Hypoplasia of the cerebellum Vascular neoplasm Severe vision loss Abnormality of the vasculature Self-injurious behavior Abnormal pupil morphology Exudative vitreoretinopathy Retinoblastoma Shallow anterior chamber Abnormal chorioretinal morphology Venous insufficiency Anterior synechiae of the anterior chamber Leukocoria Sclerocornea Erectile abnormalities Phthisis bulbi Abnormality of the retinal vasculature Abnormality of the helix Retinal dysplasia Vitreoretinopathy Cerebellar hypoplasia Ectopia lentis Neurodegeneration Diabetes mellitus Abnormality of the nervous system Anxiety EEG abnormality Autism Cerebral cortical atrophy Glaucoma Muscular dystrophy Abnormality of the eye Myoclonus Dementia Remnants of the hyaloid vascular system Behavioral abnormality Blindness Optic atrophy Aggressive behavior Developmental regression Progressive hearing impairment Psychosis Intellectual disability, progressive Camptodactyly Opacification of the corneal stroma Clonus Hallucinations Stereotypy Blepharophimosis Irritability Migraine Sleep disturbance Retinal degeneration Confusion Delayed puberty Attention deficit hyperactivity disorder Retinopathy Hirsutism Platyspondyly Full cheeks Wide mouth Trigonocephaly Lissencephaly Pointed chin Postnatal microcephaly Heterotopia Pachygyria Joint stiffness Retinal coloboma Abnormality of the pinna Abnormal heart morphology Ptosis Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Long palpebral fissure Downslanted palpebral fissures Alobar holoprosencephaly Dental crowding Mild global developmental delay Spinal cord compression Basal ganglia calcification Hyperostosis Abnormality of dental morphology Sparse eyelashes Large fontanelles Syndactyly Sparse scalp hair Short palpebral fissure Overgrowth Underdeveloped nasal alae Triangular face Toe syndactyly Clinodactyly Hypoplasia of the premaxilla Semilobar holoprosencephaly Hypoplasia of teeth Anteriorly placed anus Broad columella Vaginal atresia Bifid nasal tip Abnormal hair pattern Eyelid coloboma Anal stenosis Anophthalmia Upper eyelid coloboma Abnormality of the hair Primary amenorrhea Amenorrhea Renal agenesis Ectodermal dysplasia Broad nasal tip Short philtrum Nasolacrimal duct obstruction Cryptophthalmos Parietal bossing Depressed nasal tip Midline defect of the nose Single median maxillary incisor Median cleft lip and palate Bilateral microphthalmos Panhypopituitarism Bilateral cleft lip and palate Bilateral cleft lip Ablepharon Median cleft lip Partial agenesis of the corpus callosum Holoprosencephaly Iris coloboma Broad forehead Hydrocephalus Macrocephaly Large earlobe Cutaneous syndactyly of toes Everted lower lip vermilion Accelerated skeletal maturation Subcapsular cataract Long fingers Preauricular pit Hemiplegia Increased susceptibility to fractures Hyperextensible skin Amblyopia Thoracic kyphosis Decreased body weight Low posterior hairline Lumbar hyperlordosis Mitral valve prolapse Unsteady gait Joint hyperflexibility Iris hypopigmentation Posterior subcapsular cataract Abnormal cardiac septum morphology Abnormality of the intervertebral disk Joint laxity Absent speech Feeding difficulties Strabismus Left hemiplegia Dysplastic aortic valve Long toe Abnormal eyebrow morphology Unilateral cryptorchidism Shield chest Thickened helices Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormality of the antihelix Pectus carinatum Hyperlordosis Cranial hyperostosis Alopecia Recurrent fractures Hypermetropia Scarring Sparse hair Proptosis Hyperkeratosis Edema Thin skin Respiratory insufficiency 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 Abnormality of the skin Wormian bones Pes planus Osteolytic defects of the phalanges of the hand Depressivity Atrial septal defect Ventricular septal defect Thin calvarium Narrow philtrum Increased thyroid-stimulating hormone level Shallow orbits Growth abnormality Striae distensae Prematurely aged appearance Slender long bone Lipoatrophy Delayed cranial suture closure Pterygium Dermal atrophy Second metatarsal posteriorly placed



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