Cataract, and Thick lower lip vermilion

Diseases related with Cataract and Thick lower lip vermilion

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


Top matches:

Medium match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Medium match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

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Other less relevant matches:

Medium match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Medium 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

Medium match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Medium match COFFIN-SIRIS SYNDROME


Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

COFFIN-SIRIS SYNDROME Is also known as css

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COFFIN-SIRIS SYNDROME

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Medium match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Thick lower lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Thick lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Muscular hypotonia Nystagmus Global developmental delay Depressed nasal bridge Myopia Micrognathia Microcephaly Hernia Intellectual disability, severe Coarse facial features Kyphosis Low-set ears Generalized hypotonia Strabismus Ptosis Abnormality of the skeletal system Downslanted palpebral fissures Wide mouth Epicanthus Cryptorchidism Thick vermilion border Hypertelorism Scoliosis Visual impairment Microphthalmia Atrial septal defect Hypoplasia of the corpus callosum Corneal opacity Bilateral sensorineural hearing impairment Abnormality of cardiovascular system morphology Macrotia Long philtrum Amblyopia Patent ductus arteriosus Abnormality of the dentition Ventriculomegaly Iris coloboma Coloboma Frontal bossing High palate Cleft palate

Rare Symptoms - Less than 30% cases


Optic atrophy Hyperactivity Neonatal hypotonia Thin upper lip vermilion Coxa valga Depressed nasal ridge Bifid uvula Mandibular prognathia Ectodermal dysplasia Prominent forehead Sparse scalp hair Protruding ear Cerebral calcification Spasticity Lens luxation Intellectual disability, mild Edema Vitreoretinopathy Esotropia Patent foramen ovale Attention deficit hyperactivity disorder Hirsutism Talipes equinovarus Ventricular septal defect Macrocephaly Broad forehead Brachydactyly Joint hypermobility Spina bifida occulta Dilatation Intrauterine growth retardation Generalized hirsutism Hydronephrosis Joint hyperflexibility Thick eyebrow Short distal phalanx of finger Congestive heart failure Autism Hypermetropia Colpocephaly Astigmatism Polyhydramnios Microcornea Overgrowth Sloping forehead Thickened skin Bilateral ptosis Abnormal heart morphology Congenital cataract Abnormal eyelash morphology Intellectual disability, profound Abnormal nasolacrimal system morphology Renal agenesis Absent speech Agenesis of corpus callosum Retinal detachment Dandy-Walker malformation Splenomegaly Telecanthus Intellectual disability, moderate Skeletal muscle atrophy Umbilical hernia Retinopathy Everted lower lip vermilion Hemangioma Intellectual disability, progressive Short nose Malar flattening Glaucoma Proptosis Anteverted nares Bulbous nose Progressive visual loss Flexion contracture Short toe Large for gestational age Dental crowding Pericardial effusion Convex nasal ridge Anonychia Aortic regurgitation Aortic root aneurysm Prominent nose Highly arched eyebrow Long face Short chin Abnormal cortical gyration Abnormal palate morphology Neurogenic bladder Scleral staphyloma Lop ear Short upper lip Hemivertebrae Profound global developmental delay Hypoplasia of teeth Accelerated skeletal maturation Growth abnormality Congenital nystagmus Aplasia/Hypoplasia of the corpus callosum Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Aortic aneurysm Relative macrocephaly Dolichocephaly Genu varum Metaphyseal widening Facial asymmetry Dystrophic fingernails Hip dislocation Aplasia/Hypoplasia of the cerebellum Lacrimation abnormality Abnormality of the clavicle Partial agenesis of the corpus callosum Abnormality of the hip bone Ectopic kidney Cutis marmorata Elbow dislocation Aplasia/Hypoplasia of the patella Renal hypoplasia/aplasia Everted upper lip vermilion Aortic arch aneurysm Prominent eyelashes Bilateral single transverse palmar creases Long eyelashes Short distal phalanx of toe Slow-growing hair Abnormality of the intervertebral disk Mental deterioration Long penis Pes planus Gait ataxia Protruding tongue Broad ribs Posterior staphyloma Clinodactyly of the 5th finger Thin bony cortex Gingival fibromatosis Hypoplastic fifth toenail Hyperextensibility of the finger joints Cavernous hemangioma Biliary atresia Generalized hypertrichosis Aplasia/Hypoplasia of the distal phalanx of the 5th finger Aplasia/Hypoplasia of the distal phalanx of the 5th toe Hypoplastic fifth fingernail Short 2nd toe Hypertrichosis Gingival overgrowth Macrogyria Radial deviation of finger Large hands Ectropion Rickets Pterygium Lissencephaly Abnormality of the cerebellar vermis Joint contracture of the hand Bilateral cryptorchidism Abnormality of the hair Pachygyria Decreased fetal movement Ambiguous genitalia Limb undergrowth Abnormality of the skin Muscle cramps Pulmonary hypoplasia Rocker bottom foot Abnormality of neuronal migration Cleft upper lip Hydranencephaly Lack of skin elasticity Abnormal eyelid morphology Broad foot Generalized edema Absent eyelashes Abnormality of nervous system morphology Abnormality of the mouth Severe intrauterine growth retardation Opisthotonus Calcaneovalgus deformity Submucous cleft hard palate Osteomalacia Abnormality of the philtrum Transposition of the great arteries Absent septum pellucidum External genital hypoplasia Prominent occiput Polymicrogyria Bifid uterus Growth delay Macroglossia Hepatosplenomegaly Camptodactyly Synophrys Delayed eruption of teeth Cleft lip Retrognathia Osteopenia Hypogonadism Dyspnea Osteoporosis Cerebellar hypoplasia Clinodactyly Small nail Syndactyly Trismus Nephrolithiasis Short neck Abnormality of the pinna Abnormal cardiac septum morphology Choroid plexus cyst Micromelia Aplasia/Hypoplasia involving the skeletal musculature Small placenta Short umbilical cord Ablepharon Abnormality of limbs Type III lissencephaly Ichthyosis Yellow subcutaneous tissue covered by thin, scaly skin Polydactyly Hypertension Toe syndactyly Arthrogryposis multiplex congenita Hepatomegaly Muscular dystrophy Finger syndactyly Cardiomyopathy Posteriorly rotated ears Spina bifida Erysipelas Congenital diaphragmatic hernia Platyspondyly Osteoarthritis High myopia Otitis media Hypoplasia of the maxilla Flat face Genu valgum Hypotrichosis Sparse hair Hypohidrosis Arthralgia Brachycephaly Hyperhidrosis Depressivity Midface retrusion Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Cherry red spot of the macula Recurrent otitis media Sparse and thin eyebrow Dysostosis multiplex Concave nasal ridge Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Ulnar bowing Anhidrotic ectodermal dysplasia Hypoplastic ilia Sparse eyelashes Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Vascular skin abnormality Short thorax Wide tufts of distal phalanges Blepharophimosis Telangiectasia Renal dysplasia Renal hypoplasia Pancytopenia Hypoplasia of penis Wide intermamillary distance Dental malocclusion Stage 5 chronic kidney disease Proteinuria Bifid scrotum Hypothyroidism Micropenis Renal insufficiency Capillary hemangioma Thoracic kyphosis Knee flexion contracture Elbow flexion contracture Motor delay Abnormal dermatoglyphics Congenital sensorineural hearing impairment Decreased nerve conduction velocity Hyperkeratosis Slurred speech Aminoaciduria Abnormal form of the vertebral bodies Abnormality of movement Neurological speech impairment Pectus carinatum EEG abnormality Skeletal dysplasia Myoclonus Telangiectasia of the skin Delayed skeletal maturation Gait disturbance Tremor Muscle weakness Ataxia Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Irregular distal femoral epiphysis Small proximal tibial epiphyses Short philtrum Respiratory distress Muscular hypotonia of the trunk Joint laxity Anxiety Gastroesophageal reflux Inguinal hernia Obesity Recurrent infections Feeding difficulties Microtia Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Prominent nasal tip Autistic behavior Smooth philtrum Retinal fold Narrow nasal bridge Feeding difficulties in infancy Recurrent respiratory infections Microtia, first degree Juvenile cataract Generalized neonatal hypotonia Eyelid coloboma Inverted nipples Long palpebral fissure Obsessive-compulsive behavior Small hand Language impairment Widely spaced teeth Plagiocephaly Cerebral visual impairment Exotropia Stereotypy Broad thumb Growth hormone deficiency Congenital microcephaly Chylothorax Meningeal calcification Leukemia Specific learning disability Lymphoma Full cheeks Broad nasal tip Sleep disturbance Retinal dystrophy Wide nose Dry skin Aggressive behavior Status epilepticus Rigidity Reduced visual acuity Upslanted palpebral fissure Severe short stature Visual loss Hypertonia Blindness Small distal femoral epiphysis Pigmentary retinopathy Subcutaneous nodule Leukonychia Flat occiput Retinal dysplasia Abnormal toenail morphology Gangrene Underdeveloped supraorbital ridges Cellulitis Chorioretinal atrophy Cortical gyral simplification Agitation Anophthalmia Abnormality of retinal pigmentation Scaling skin Deep philtrum Optic nerve hypoplasia Venous thrombosis Pointed chin Muscle stiffness Skin ulcer Lymphedema Mesiodens



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