Nystagmus, and Thick lower lip vermilion

Diseases related with Nystagmus and Thick lower lip vermilion

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


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE


Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

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Other less relevant matches:

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

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 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 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay 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 Nystagmus and Thick lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly Wide nose Wide nasal bridge Intellectual disability, severe Hypoplasia of the corpus callosum Microcephaly Coarse facial features Micrognathia Hernia Hyperactivity Abnormality of the skeletal system Intellectual disability, mild Downslanted palpebral fissures Hypertelorism Ataxia Scoliosis Sensorineural hearing impairment Ptosis High palate Visual impairment Gait ataxia Prominent forehead Protruding ear Microphthalmia Long face Macrotia Spasticity Myopia Brachycephaly Cerebral atrophy Macrocephaly Deeply set eye Corneal opacity Joint laxity Platyspondyly Kyphosis Frontal bossing Aggressive behavior Pointed chin Wide mouth Autistic behavior Delayed speech and language development Low-set ears Bulbous nose Edema Hydronephrosis Joint hyperflexibility

Rare Symptoms - Less than 30% cases


Bilateral single transverse palmar creases Cleft palate Recurrent respiratory infections Inguinal hernia High forehead Developmental regression Brachydactyly Dysostosis multiplex Hoarse voice Progressive visual loss Facial asymmetry Widely spaced teeth Gait disturbance Mental deterioration Abnormality of the dentition Retinopathy Congenital diaphragmatic hernia Feeding difficulties in infancy Splenomegaly Myoclonus Delayed skeletal maturation Bilateral sensorineural hearing impairment Glaucoma Short nose Atrial septal defect Recurrent infections Microcornea Sleep disturbance Hypermetropia Cryptorchidism Iris coloboma Attention deficit hyperactivity disorder Upslanted palpebral fissure Visual loss Intrauterine growth retardation Hypertonia Blindness Optic atrophy Highly arched eyebrow Abnormality of cardiovascular system morphology Autism Hypoplastic frontal sinuses Lens luxation Thick upper lip vermilion Vitreoretinopathy Thickened calvaria Coxa valga Sparse and thin eyebrow Amblyopia Esotropia Retinal detachment Dilatation Overgrowth Palpebral edema EEG abnormality Flat face Neonatal hypotonia Thick vermilion border Thick eyebrow Cognitive impairment Absent speech Telecanthus Skeletal dysplasia Tremor Sparse eyebrow High, narrow palate Broad forehead Infantile muscular hypotonia Depressed nasal ridge Narrow mouth Midface retrusion Broad nasal tip Generalized myoclonic seizures Short neck Posteriorly rotated ears Hypogonadism Micropenis Short femoral neck Pes cavus Encephalopathy Clinodactyly Hypospadias Obesity Osteopenia Immunodeficiency Growth delay Posterior staphyloma Polyhydramnios Camptodactyly of finger Muscular hypotonia of the trunk Arachnodactyly Tapered finger Single transverse palmar crease Small hand Short palm Polymicrogyria Thin vermilion border Smooth philtrum Low-set, posteriorly rotated ears Toe syndactyly Severe global developmental delay Small for gestational age Prominent nasal bridge Scleral staphyloma Postnatal growth retardation Short 2nd toe Congenital nystagmus Lop ear Abnormal heart morphology Hip dislocation Coloboma Intellectual disability, moderate Pes planus Dyskinesia Agenesis of corpus callosum Clinodactyly of the 5th finger Patent ductus arteriosus Abnormality of the cerebral white matter Congestive heart failure Talipes equinovarus Ventricular septal defect Cerebral visual impairment Aplasia/Hypoplasia of the distal phalanx of the 5th finger Aplasia/Hypoplasia of the distal phalanx of the 5th toe Hypoplastic fifth fingernail Hypoplastic fifth toenail Dolichocephaly Prominent nose Short upper lip Relative macrocephaly Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Aortic aneurysm Genu varum Renal agenesis Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Aortic regurgitation Short chin Short toe Dental crowding Intellectual disability, profound Convex nasal ridge Delayed myelination Fine hair Underdeveloped nasal alae Macroglossia Gingival overgrowth Chronic diarrhea Involuntary movements Mitral regurgitation Progressive neurologic deterioration Psychosis Neuronal loss in central nervous system Gliosis Ascites Aspiration Neutropenia Nyctalopia Erythema Hepatosplenomegaly Abnormality of metabolism/homeostasis Behavioral abnormality Diarrhea Cardiomyopathy Hydrops fetalis Intellectual disability, progressive Hyperreflexia Facial edema Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Adenoma sebaceum Vacuolated lymphocytes Acne Visceromegaly Abnormality of the ovary Spondylolisthesis Broad face Macroorchidism Beaking of vertebral bodies Muscle fibrillation Pathologic fracture Emotional lability Hepatomegaly Motor delay Growth hormone deficiency Sandal gap Radial deviation of finger Cupped ear Proximal placement of thumb Abnormality of the thorax Abnormality of the voice Nasal speech Abnormality of the outer ear Feeding difficulties Microretrognathia Slender finger Narrow face Dystonia Cafe-au-lait spot Short thumb Abnormality of the genital system Open mouth Aplasia/Hypoplasia of the patella Small nail Interphalangeal joint contracture of finger Mild short stature Abnormality of digit Abnormality of the proximal phalanx of the thumb Toe clinodactyly Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Deep plantar creases Insomnia Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Intestinal atresia Microphallus Overlapping fingers High anterior hairline Abnormality of the intervertebral disk Elbow dislocation Slow-growing hair Bifid uvula Osteoarthritis Sparse scalp hair High myopia Cerebral calcification Otitis media Abnormal social behavior Ectodermal dysplasia Hypoplasia of the maxilla Nonprogressive cerebellar ataxia Poor motor coordination Genu valgum Congenital cataract Hypotrichosis Sparse hair Arthralgia Proptosis Narrow nasal tip Recurrent otitis media Hypohidrosis Depressivity Hypoplastic ilia Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Absent frontal sinuses Brisk reflexes Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplasia of the zygomatic bone Positive Romberg sign Radial bowing Large forehead Pierre-Robin sequence Aplasia cutis congenita Abnormal cortical gyration Ectopia lentis Sparse eyelashes Impaired social interactions Hyperhidrosis Malar flattening Irregular distal femoral epiphysis Small basal ganglia Abnormality of the skin Low posterior hairline Skeletal muscle atrophy Low anterior hairline Metaphyseal irregularity Muscle weakness Spondyloepiphyseal dysplasia Flared metaphysis Posterior scalloping of vertebral bodies Confusion Metaphyseal striations Long fibula Narrow iliac wings Carpal bone hypoplasia Irregular epiphyses Small epiphyses Spondyloepimetaphyseal dysplasia Flat acetabular roof Hirsutism Synophrys Mesiodens Short thorax Short ear Hippocampal atrophy Hypoplastic hippocampus Segmental myoclonic seizures Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Cherry red spot of the macula Vascular skin abnormality Decreased nerve conduction velocity Hyperkeratosis Slurred speech Aminoaciduria Abnormal form of the vertebral bodies Hydrocephalus Abnormality of movement Neurological speech impairment Pectus carinatum Abnormality of the pinna Irregular proximal tibial epiphyses Wide tufts of distal phalanges Lacrimation abnormality Abnormal nasolacrimal system morphology Melanonychia Myopic astigmatism Chorioretinal dysplasia Exudative vitreoretinopathy Retinal thinning Panniculitis Erysipelas Prominent nasal tip Constipation Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Gangrene Abnormal eyelash morphology Chorioretinal lacunae Cerebellar atrophy Cellulitis Spina bifida occulta Abnormality of the clavicle Partial agenesis of the corpus callosum Abnormality of the hip bone Ectopic kidney Cutis marmorata Aplasia/Hypoplasia of the cerebellum Irregular vertebral endplates Renal hypoplasia/aplasia Generalized hirsutism Dysarthria Long eyelashes Self-injurious behavior Dandy-Walker malformation Short distal phalanx of finger Delayed ability to walk Short philtrum Nasogastric tube feeding Recurrent hand flapping Underdeveloped supraorbital ridges Chorioretinal atrophy Small proximal tibial epiphyses Thin upper lip vermilion Full cheeks Gastroesophageal reflux Retinal dystrophy Dry skin Astigmatism Leukemia Abnormal pyramidal sign Rigidity Mandibular prognathia Specific learning disability Reduced visual acuity Severe short stature Dysmetria Unsteady gait Memory impairment Intention tremor Small distal femoral epiphysis Meningeal calcification Lymphoma Cerebral cortical atrophy Cortical gyral simplification Venous thrombosis Agitation Flat occiput Anophthalmia Scaling skin Patent foramen ovale Bilateral ptosis Deep philtrum Optic nerve hypoplasia Muscle stiffness Pigmentary retinopathy Skin ulcer Lymphedema Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Status epilepticus Cerebellar hypoplasia Sloping forehead Aspartylglucosaminuria



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