Nystagmus, and Hypoplasia of the maxilla

Diseases related with Nystagmus and Hypoplasia of the maxilla

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


Top matches:

Low match X-LINKED SPASTIC PARAPLEGIA TYPE 16


Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}.

X-LINKED SPASTIC PARAPLEGIA TYPE 16 Is also known as spg16

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED SPASTIC PARAPLEGIA TYPE 16

Low match TYROSINEMIA TYPE 2


Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

TYROSINEMIA TYPE 2 Is also known as tyrosinemia due to tyrosine aminotransferase deficiency|keratosis palmoplantaris with corneal dystrophy|tyrosinemia due to tat deficiency|tyrosine transaminase deficiency|tyrosinosis, oculocutaneous type|tyrosine aminotransferase deficiency|keratosis palm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about TYROSINEMIA TYPE 2

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

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Other less relevant matches:

Low match CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Low match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Low 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

Low 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

Low match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Low match GORLIN-CHAUDHRY-MOSS SYNDROME


Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Low match COHEN SYNDROME; COH1


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

Top 5 symptoms//phenotypes associated to Nystagmus and Hypoplasia of the maxilla

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Nystagmus and Hypoplasia of the maxilla. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Myopia

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Microphthalmia Hearing impairment Brachycephaly Cryptorchidism Motor delay Micrognathia Optic atrophy Generalized hypotonia Astigmatism Low anterior hairline Sensorineural hearing impairment Neurological speech impairment Depressed nasal bridge Downslanted palpebral fissures Cataract Intrauterine growth retardation Intellectual disability, mild Micropenis Hypothyroidism Agenesis of corpus callosum High palate Intellectual disability, severe Respiratory distress Cleft palate Abnormal facial shape Ptosis Long eyelashes Feeding difficulties Low-set ears High, narrow palate Ataxia Genu valgum Long philtrum Abnormality of the dentition Anteverted nares Preauricular skin tag Abnormality of the skeletal system Feeding difficulties in infancy Wide nasal bridge Gastroesophageal reflux Mandibular prognathia Kyphosis Macrocephaly Muscular hypotonia Tapered finger Craniosynostosis Short nose Abnormality of retinal pigmentation Obesity Visual loss Growth delay Behavioral abnormality Malar flattening Visual impairment

Rare Symptoms - Less than 30% cases


Joint hyperflexibility Ventricular septal defect Pectus excavatum Clinodactyly of the 5th finger Narrow forehead Esotropia Short philtrum Prominent nasal bridge Finger syndactyly Delayed puberty Scrotal hypoplasia Arachnodactyly Abnormality of skin pigmentation Iris coloboma Hyperreflexia Respiratory tract infection Neutropenia Mitral valve prolapse Neonatal hypotonia Retinal detachment Macrotia Decreased fetal movement Thick eyebrow Convex nasal ridge Thin upper lip vermilion Short distal phalanx of finger High myopia Sparse scalp hair Wide mouth Hypermetropia Hypotrichosis Platyspondyly Sparse hair Facial hypotonia Proptosis Midface retrusion Limb tremor Hypoplasia of the zygomatic bone Failure to thrive Tetraplegia Coronal craniosynostosis Clumsiness Abnormality of the face Frontal bossing Exotropia Epicanthus Hypoplastic frontal sinuses Turricephaly Intellectual disability, progressive Partial agenesis of the corpus callosum Macrodontia of permanent maxillary central incisor Open mouth EEG abnormality Gingival overgrowth Infertility Retinal dystrophy Retinopathy Coloboma Dilatation Joint laxity Narrow mouth Photophobia Posteriorly rotated ears Smooth philtrum Abnormal heart morphology Respiratory insufficiency Pigmentary retinopathy Talipes equinovarus Oligohydramnios Protruding tongue Synophrys Conductive hearing impairment Cerebellar hypoplasia Postnatal growth retardation Intellectual disability, moderate Growth hormone deficiency Retrognathia Microcornea Atrial septal defect Otitis media Thick hair Sandal gap Reduced number of teeth Failure to thrive in infancy Cubitus valgus Tremor Muscle weakness Hyperhidrosis Abnormality of the hip bone Weak cry Hernia Hydrocephalus Aplasia/Hypoplasia of the earlobes Abnormal eyelid morphology Macrodontia Narrow palm Microglossia Brachydactyly Heterotopia Cat cry Chorioretinal dystrophy Anophthalmia Slender toe Narrow philtrum Lipoma of corpus callosum Hypoplasia of the corpus callosum Thick corpus callosum Hemeralopia Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Syndactyly Midline facial cleft Anterior basal encephalocele Patent ductus arteriosus High-pitched cry Chorioretinal dysplasia Delayed skeletal maturation Hypertension Rheumatoid arthritis Cranium bifidum occultum Childhood-onset truncal obesity Multiple lipomas Adrenal insufficiency Diabetes insipidus Radial deviation of finger Preaxial polydactyly Easy fatigability Joint contracture of the hand Lymphedema Facial cleft Abnormality of the genital system Encephalocele Fine hair Postaxial hand polydactyly Tetralogy of Fallot Decreased testicular size Dandy-Walker malformation Underdeveloped nasal alae Occipital encephalocele Median cleft lip Morning glory anomaly Broad philtrum Scleral staphyloma Widely-spaced maxillary central incisors Absent tibia Median cleft palate Parietal foramina Broad columella Bifid nose Agenesis of cerebellar vermis Alopecia totalis Lipoma Bifid nasal tip Conical tooth Preaxial foot polydactyly Prominent eyelashes Widow's peak Calvarial skull defect Short columella Meningocele Umbilical hernia Small nail Abnormality of the eye Paralysis Deep venous thrombosis Small hand Thick vermilion border Joint hypermobility Furrowed tongue Retinal degeneration Macular edema Severe global developmental delay Small for gestational age Bone spicule pigmentation of the retina Stroke Nyctalopia Protruding ear Highly arched eyebrow Arthritis Pes planus Kyphoscoliosis Abnormality of the larynx Reduced visual acuity Diabetes mellitus Rod-cone dystrophy Recurrent aphthous stomatitis Thrombocytopenia Tapetoretinal degeneration Recurrent infections Blindness Edema Misalignment of teeth Single transverse palmar crease Aplasia/Hypoplasia of the nasal bone Gingivitis Constriction of peripheral visual field Abnormality of dental morphology Cerebral hemorrhage Disproportionate tall stature Truncal obesity Narrow nasal bridge Celiac disease Subcapsular cataract Thoracic scoliosis Peripheral visual field loss Hiatus hernia Posterior subcapsular cataract Radioulnar synostosis Short metacarpal Vocal cord paralysis Precocious puberty Short metatarsal Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Progressive microcephaly Tall stature Lumbar hyperlordosis Progressive visual loss Aciduria Prominent nose Cardiomyopathy Aplastic/hypoplastic lacrimal glands Abnormality of the pinna Pachygyria Aortic aneurysm Cutis gyrata of scalp Redundant skin Coarse hair Abnormality of vision Abnormality of the metacarpal bones Oligodontia Bicuspid aortic valve Generalized hirsutism Wide anterior fontanel Left ventricular hypertrophy Recurrent urinary tract infections Hypertrichosis Laryngeal stenosis Short palpebral fissure Intracranial hemorrhage Low posterior hairline Cerebellar vermis hypoplasia Pulmonary arterial hypertension Microdontia Intestinal malrotation Sepsis Triangular face Everted lower lip vermilion Pulmonary hypoplasia Abnormality of the foot Broad forehead Large hands Hyperplasia of the maxilla Congenital craniofacial dysostosis Iris atrophy Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Recurrent aspiration pneumonia Absence of subcutaneous fat Dermal translucency Hypoplasia of the musculature Pneumothorax Absent nipple Deep palmar crease Prominent superficial veins Premature skin wrinkling Bull's eye maculopathy Tricuspid regurgitation Granulocytopenia Sclerocornea Abnormality of the skull Underdeveloped supraorbital ridges Congenital neutropenia Hypoplastic nipples Postural instability Prematurely aged appearance Anteriorly placed anus Natal tooth Reduced subcutaneous adipose tissue Anonychia Bilateral cryptorchidism Broad nasal tip Pierre-Robin sequence Postaxial polydactyly Limb muscle weakness Sensorimotor neuropathy Psychosis Spastic tetraplegia Polyneuropathy Sensory neuropathy Inability to walk Long face Peripheral axonal neuropathy Facial asymmetry Abnormality of the cerebral white matter CNS hypomyelination Developmental regression Facial palsy Areflexia Ventriculomegaly Skeletal muscle atrophy Peripheral neuropathy Flexion contracture Myopic astigmatism Aglossia Proboscis Paraparesis Decreased nerve conduction velocity Mandibular aplasia EMG: chronic denervation signs Encephalopathy Absent speech Vomiting Cerebellar atrophy Fever Abnormal anterior horn cell morphology Decreased sensory nerve conduction velocity Axonal degeneration/regeneration Diffuse white matter abnormalities Progressive peripheral neuropathy Hemiplegia/hemiparesis Motor polyneuropathy Restrictive deficit on pulmonary function testing Aqueductal stenosis Demyelinating peripheral neuropathy Facial diplegia Increased CSF protein Onion bulb formation Infantile spasms 2-3 toe syndactyly Decreased motor nerve conduction velocity Macular scar Ectopic posterior pituitary Constipation Shuffling gait Pain Abnormality of the hallux Motor aphasia Functional abnormality of the gastrointestinal tract Functional abnormality of the bladder Low frustration tolerance Mood swings Lower limb amyotrophy Sensory ataxia Urinary bladder sphincter dysfunction Hyperkeratosis Restlessness Aphasia Urinary urgency Choreoathetosis Urinary incontinence Lower limb muscle weakness Paraplegia Spastic paraplegia Babinski sign Spasticity Delayed speech and language development Acidosis Central hypothyroidism 4-Hydroxyphenylpyruvic aciduria Retinal dysplasia Hypoplasia of the fovea Posterior embryotoxon Short middle phalanx of finger Optic nerve hypoplasia Arnold-Chiari malformation Microretrognathia Scarring Herpetiform corneal ulceration Abnormality of amino acid metabolism Corneal opacity Hypertyrosinemia Ocular pain Male infertility Epiphora Keratitis Palmoplantar hyperkeratosis Abnormality of the nail Abnormality of the skin Palmoplantar keratoderma Papule Inguinal hernia Hyperactivity Wide nose Sparse eyelashes Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Radial bowing Vitreoretinopathy Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Coxa valga Ulnar bowing Sparse and thin eyebrow Hypohidrosis Amblyopia Recurrent otitis media Osteoarthritis Thick lower lip vermilion Cerebral calcification Ectodermal dysplasia Bifid uvula Flat face Anhidrotic ectodermal dysplasia Lens luxation Arthralgia Clinodactyly Oral cleft Talipes Camptodactyly Cleft lip Telecanthus Polydactyly Upslanted palpebral fissure Hypogonadism Alopecia Abnormality of cardiovascular system morphology Absent frontal sinuses Aplasia/Hypoplasia of the tongue Abnormal eyelash morphology Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Calcification of falx cerebri Abnormal vitreous humor morphology Congenital cataract Glaucoma Cerebral cortical atrophy Focal-onset seizure Cerebral palsy Widely spaced teeth Aspiration Postnatal microcephaly Broad-based gait Status epilepticus Intellectual disability, profound Generalized-onset seizure Overgrowth Macroglossia Hyperkinesis Abnormal cerebellum morphology Hypopigmentation of the skin Sleep disturbance Falls Abnormality of movement Autistic behavior Anxiety Deeply set eye Autism Gait ataxia Drooling Incoordination Depressivity Short attention span Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Happy demeanor Moderate global developmental delay Profound global developmental delay Fair hair Self-injurious behavior Blue irides Progressive gait ataxia Epileptic spasms Overweight Drowsiness Atonic seizures Keratoconus Polyphagia Albinism Flat occiput Hypoplastic philtrum



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