Microphthalmia, and Thick eyebrow

Diseases related with Microphthalmia and Thick eyebrow

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

Top matches:

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 COHEN SYNDROME

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Other less relevant matches:

High match MYHRE SYNDROME

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see {193510}) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008). Genetic Heterogeneity of All Types of Waardenburg SyndromeWaardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (OMIM ) for a discussion of genetic heterogeneity of WS type 2, and WS4A (OMIM ) for a discussion of genetic heterogeneity of WS type 4.

WAARDENBURG SYNDROME, TYPE 1; WS1 Is also known as waardenburg syndrome with dystopia canthorum

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Mandibular prognathia


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 1; WS1

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Thick eyebrow

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Motor delay

Uncommon Symptoms - Between 30% and 50% cases

Prominent nasal bridge

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Short philtrum Clinodactyly of the 5th finger Iris coloboma Downslanted palpebral fissures Open mouth Sensorineural hearing impairment Hypoplasia of the corpus callosum Strabismus Intrauterine growth retardation Abnormality of the skeletal system Generalized hypotonia Respiratory distress Cleft palate Kyphosis Pes planus Cataract Genu valgum Blepharophimosis Abnormal cardiac septum morphology Synophrys Abnormal heart morphology High palate Sandal gap Ptosis Short nose Hernia Mitral valve prolapse Abnormality of cardiovascular system morphology Depressed nasal bridge Pectus excavatum High, narrow palate Flexion contracture Small for gestational age Cubitus valgus Postnatal growth retardation Joint hyperflexibility Mandibular prognathia Retrognathia Hyperactivity Gingival overgrowth Obesity Kyphoscoliosis Tapered finger Optic atrophy Arachnodactyly Midface retrusion Hypoplasia of the maxilla Feeding difficulties in infancy Abnormality of skin pigmentation Patent foramen ovale Feeding difficulties Hip dislocation Brachydactyly Wide nasal bridge Frontal bossing Short neck Clinodactyly Pulmonic stenosis High forehead Thin upper lip vermilion Radioulnar synostosis Anteverted nares Protruding ear Finger syndactyly Coloboma Deeply set eye Single transverse palmar crease Malar flattening Convex nasal ridge Hypospadias Patent ductus arteriosus Microtia

Rare Symptoms - Less than 30% cases

Misalignment of teeth Autism Decreased body weight Exotropia Inguinal hernia Conductive hearing impairment Behavioral abnormality Respiratory tract infection Severe short stature Hypertension Narrow mouth Aortic valve stenosis Narrow face 2-3 toe syndactyly Submucous cleft hard palate Recurrent infections Macrocephaly Cardiomyopathy Macrotia Autistic behavior Abnormally large globe Abnormality of the larynx Delayed skeletal maturation Upslanted palpebral fissure Talipes Pachygyria Elbow flexion contracture 11 pairs of ribs Laryngomalacia Lumbar scoliosis Prominent forehead Proptosis Osteopenia Recurrent fractures Blue sclerae Accelerated skeletal maturation Narrow nasal bridge Tall stature Hypermetropia Cerebellar hypoplasia Astigmatism Oral cleft Choanal atresia Abnormal lung morphology Precocious puberty Dilatation Ventriculomegaly Aciduria Bifid uvula Joint laxity Intellectual disability, moderate Smooth philtrum Short metacarpal Prominent nose Growth hormone deficiency Dental malocclusion Failure to thrive Wide mouth Myopia Abnormality of retinal pigmentation Delayed puberty Aplasia/Hypoplasia of the earlobes Neurological speech impairment Thick hair Macrodontia Chorioretinal dystrophy Abnormality of the dentition Broad forehead Nystagmus Glaucoma Narrow palm Posteriorly rotated ears Visual loss Delayed speech and language development Syndactyly Anteverted ears Long eyelashes Atrial septal defect Talipes equinovarus Cat cry Neutropenia Preauricular skin tag Weak cry Low anterior hairline Reduced number of teeth Webbed neck Highly arched eyebrow Retinal detachment Failure to thrive in infancy Intellectual disability, severe Toe syndactyly Abnormality of the hip bone Hypothyroidism Everted lower lip vermilion Umbilical hernia Long philtrum Decreased fetal movement Microcornea Thin vermilion border Slender toe Mitral regurgitation Meningitis Epicanthus Left ventricular hypertrophy Joint dislocation Microretrognathia Amblyopia Rhizomelia Lymphedema Cutis laxa Broad nasal tip Bicuspid aortic valve Deep palmar crease Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Abnormality of the abdominal wall Endocardial fibroelastosis Small face Hyperextensible skin Generalized osteoporosis Overlapping fingers Upper limb undergrowth Aortic root aneurysm Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Cardiomegaly Metatarsus adductus Spondyloepiphyseal dysplasia Low posterior hairline Brachycephaly Congenital diaphragmatic hernia Hypoplasia of dental enamel Severe intrauterine growth retardation Proportionate short stature Dislocated radial head Acute myeloid leukemia Myeloid leukemia Clitoral hypertrophy Myelodysplasia Narrow palate Dental crowding Bulbous nose Chromosome breakage Cerebellar vermis hypoplasia Pancytopenia Sloping forehead Triangular face Facial asymmetry Leukemia Abnormality of the pinna Hyperlordosis Pes cavus Hypotelorism Cone-shaped epiphyses of the phalanges of the hand Dolichocephaly Microdontia Congestive heart failure Esotropia Flat face Abnormality of the foot Narrow chest Pectus carinatum Micropenis Cerebral cortical atrophy Broad distal phalanges of all fingers Osteoporosis Hydronephrosis Hydrocephalus Abnormal cortical gyration Muscular hypotonia of the trunk Fever Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Selective tooth agenesis Acute monocytic leukemia Spatulate thumbs White forelock Metacarpophalangeal joint hyperextensibility Hirsutism Incoordination Reduced bone mineral density Sleep apnea Generalized hirsutism Increased body weight Bowing of the long bones Omphalocele Thin skin Pulmonary arterial hypertension Overgrowth Short distal phalanx of finger Overfolded helix Bruising susceptibility Polymicrogyria Craniosynostosis Apnea Agenesis of corpus callosum Pneumonia Cerebral atrophy Fatigue Muscle weakness Periventricular white matter hyperdensities Increased susceptibility to fractures Slender long bone Hemiclonic seizures Dicarboxylic aciduria Large sternal ossification centers Bullet-shaped middle phalanges of the hand Prominence of the premaxilla Short mandibular rami Laryngeal hypoplasia Macrogyria Septo-optic dysplasia Irregular dentition Atlantoaxial dislocation Recurrent aspiration pneumonia Eclabion Protruding tongue Short sternum Villous atrophy Upper airway obstruction Choanal stenosis Obstructive sleep apnea Shallow orbits Glossoptosis Megalocornea Poor appetite Hypoplasia of the odontoid process Spinal canal stenosis Frontal cortical atrophy Happy demeanor Bilateral elbow dislocations Hypoplastic philtrum Absent speech Cognitive impairment Supernumerary vertebrae Aplasia of the vagina Hypoplastic iris stroma White eyebrow White eyelashes Partial albinism Supernumerary ribs Hypopigmentation of the fundus Heterochromia iridis Myoclonus Myelomeningocele Blue irides Sprengel anomaly Premature graying of hair Congenital sensorineural hearing impairment Spina bifida Aganglionic megacolon Underdeveloped nasal alae Hypopigmentation of the skin Telecanthus Encephalopathy EEG abnormality Abnormality of nervous system morphology Plagiocephaly Abnormal corpus callosum morphology Periventricular leukomalacia Agenesis of cerebellar vermis Large earlobe Abnormality of the periventricular white matter Poor eye contact Infantile spasms Cupped ear Tented upper lip vermilion Optic nerve hypoplasia Absence seizures Attention deficit hyperactivity disorder Short chin Stereotypy Heterotopia Broad-based gait Epileptic encephalopathy Febrile seizures Generalized myoclonic seizures Short foot Downturned corners of mouth Inability to walk Generalized tonic-clonic seizures Anemia Wide anterior fontanel Childhood-onset truncal obesity Fine hair Abnormality of the voice Short long bone Narrow palpebral fissure EMG abnormality Short toe Abnormality of epiphysis morphology Thickened skin Abnormality of the metaphysis Short palpebral fissure Abnormality of the ribs Stridor Coarctation of aorta Abnormality of the cardiovascular system Specific learning disability Amenorrhea Limitation of joint mobility Progressive cerebellar ataxia Short palm Platyspondyly Cough Scarring Cone-shaped epiphysis Oral-pharyngeal dysphagia Joint stiffness Arthropathy Restrictive cardiomyopathy Broad ribs Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Irregular vertebral endplates Wheezing Pericarditis Keratoconus Radial deviation of finger Thickened calvaria Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Pericardial effusion External genital hypoplasia Blurred vision Overlapping toe Skeletal muscle hypertrophy Sparse hair Abnormal eyelash morphology Constrictive median neuropathy Hammertoe Peripheral pulmonary artery stenosis Bifid nasal tip Asplenia Double outlet right ventricle Increased number of teeth Broad palm Dextrocardia Adrenal insufficiency Anophthalmia Heart murmur Persistence of primary teeth Ectopia lentis Congenital cataract Oligodontia Abnormal palate morphology Spastic paraparesis Long face Short thumb Renal agenesis Delayed eruption of teeth Intestinal malrotation Hand clenching Single median maxillary incisor Hypoplasia of the zygomatic bone Intellectual disability, mild Abnormal eyelid morphology Camptodactyly Cleft lip Respiratory failure Hypogonadism Aplasia/Hypoplasia of the tongue Recurrent respiratory infections Constipation Vomiting Cerebellar atrophy Respiratory insufficiency Remnants of the hyaloid vascular system Ataxia Laterally curved eyebrow Flexion contracture of the 2nd toe Flexion contracture of the 4th toe Multiple unerupted teeth Fused teeth Transverse vaginal septum Asymmetry of the ears Septate vagina Phthisis bulbi Craniofacial hyperostosis Peptic ulcer Macrodontia of permanent maxillary central incisor Rheumatoid arthritis Thoracic scoliosis Subcapsular cataract Celiac disease Finger clinodactyly Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Intracranial hemorrhage Hiatus hernia Short metatarsal Holoprosencephaly Recurrent skin infections Venous thrombosis Leukopenia Intellectual disability, progressive Progressive microcephaly Abnormal dermatoglyphics Clumsiness Lumbar hyperlordosis Peripheral visual field loss Posterior subcapsular cataract Narrow forehead Granulocytopenia Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Hemeralopia Cutis gyrata of scalp Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Bull's eye maculopathy Gingivitis Iris atrophy Tapetoretinal degeneration Recurrent aphthous stomatitis Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Facial hypotonia Vocal cord paralysis Microglossia High myopia Pigmentary retinopathy Femoral hernia Abnormality of the pubic bone Thrombocytopenia Blindness Edema Visual impairment Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Constrictive pericarditis Diabetes mellitus Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Rod-cone dystrophy Reduced visual acuity Progressive visual loss Retinal degeneration Deep philtrum Otitis media Trigonocephaly Supernumerary nipple Absent septum pellucidum Aplasia/Hypoplasia of the thumb Small hand Thick vermilion border Retinal dystrophy Joint hypermobility Abnormality of the gastrointestinal tract Gastroesophageal reflux Thickened helices Severe global developmental delay Stroke Nyctalopia Retinopathy Paralysis Retinoblastoma Arthritis Neonatal hypotonia Leukocoria Distal widening of metacarpals


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