Tremor, and Underdeveloped nasal alae

Diseases related with Tremor and Underdeveloped nasal alae

In the following list you will find some of the most common rare diseases related to Tremor and Underdeveloped nasal alae that can help you solving undiagnosed cases.


Top matches:

Medium match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Medium match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Medium match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

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Other less relevant matches:

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Low match PYCR1-RELATED DE BARSY SYNDROME


De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Low match OGDEN SYNDROME


Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Low match DISTAL 22Q11.2 MICRODELETION SYNDROME


Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Tremor and Underdeveloped nasal alae

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Short stature 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 Tremor and Underdeveloped nasal alae. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Cryptorchidism Ataxia Hearing impairment High palate Constipation Epicanthus Atrial septal defect Sparse hair Scoliosis Failure to thrive Micrognathia Autistic behavior Inguinal hernia Abnormality of the dentition Clinodactyly of the 5th finger Frontal bossing Fine hair Wide nasal bridge Blepharophimosis Postnatal growth retardation Thin vermilion border Macrotia Delayed speech and language development Strabismus Muscular hypotonia Ventricular septal defect Intrauterine growth retardation Ventriculomegaly Postnatal microcephaly Hyperactivity Gait ataxia Autism Gastroesophageal reflux Aggressive behavior Cutis laxa Prominent forehead Stereotypy Attention deficit hyperactivity disorder Hernia Absent speech Muscular hypotonia of the trunk Coarse hair Telecanthus Deeply set eye Hypertension Prominent nasal bridge Low-set ears Cleft palate Abnormal facial shape Facial asymmetry Pes planus Agenesis of corpus callosum Neonatal hypotonia Downslanted palpebral fissures Brachydactyly

Rare Symptoms - Less than 30% cases


Generalized-onset seizure Microretrognathia Dermal translucency Kyphosis Thin upper lip vermilion Intellectual disability, severe Midface retrusion Renal insufficiency Pyloric stenosis Skeletal muscle atrophy Abnormal cerebellum morphology Encephalopathy Short philtrum Narrow mouth Feeding difficulties Obsessive-compulsive behavior Alopecia Delayed skeletal maturation Thick vermilion border Dilatation Camptodactyly of finger Wide mouth Depressivity Clinodactyly Developmental regression Posteriorly rotated ears Abnormality of the nervous system Hypertonia Anxiety Osteoporosis EEG abnormality Coarse facial features Arrhythmia Behavioral abnormality Proteinuria High, narrow palate Cerebral cortical atrophy Malar flattening Joint laxity Hyperlordosis Lobulated tongue Highly arched eyebrow Milia Dystonia Abnormality of the skeletal system Flexion contracture Redundant skin Tongue nodules Athetosis Elbow flexion contracture Deviation of finger Pancreatic cysts Narrow forehead Congenital glaucoma Abnormality of the pancreas Torticollis Median cleft lip Myopia Depressed nasal bridge Large fontanelles Excessive wrinkled skin Sensorineural hearing impairment Spastic paraparesis Hip dislocation Thin skin Anteverted nares Distal amyotrophy Narrow nasal ridge Poor eye contact Hypotelorism Pectus carinatum Blue sclerae Choanal atresia Hypoplasia of the corpus callosum Tetraplegia Coma Peripheral demyelination Pes cavus Abdominal pain Hypopigmentation of the skin Distal sensory impairment Hepatosplenomegaly Arthrogryposis multiplex congenita Abnormal pyramidal sign Myoclonus Distal muscle weakness Hypogonadism Poor speech Hyporeflexia Long nose Generalized myoclonic seizures Urinary incontinence Round face Esotropia Nephrotic syndrome Hypsarrhythmia Status epilepticus Tetraparesis Open mouth Finger clinodactyly Severe global developmental delay Absence seizures Drooling Tented upper lip vermilion Abnormality of the musculature Areflexia Aganglionic megacolon Protruding tongue Shawl scrotum Central hypothyroidism Nystagmus Hypothyroidism Motor delay Peripheral neuropathy Short nose Narrow palpebral fissure Glaucoma Single transverse palmar crease Hepatomegaly Splenomegaly Spastic tetraplegia Hypoplasia of the semicircular canal Hypohidrosis Premature coronary artery atherosclerosis Immunodeficiency Neoplasm Facial wrinkling Enlarged naris Minimal subcutaneous fat Abnormality of the forehead Abnormal head movements Cardiogenic shock Abnormality of the nares Capillary malformation Everted upper lip vermilion Toe syndactyly Acetabular dysplasia Unilateral cryptorchidism Torsade de pointes Supraventricular tachycardia Thick upper lip vermilion Shuffling gait Excessive daytime somnolence Ventricular extrasystoles Short columella Pulmonary artery stenosis Recurrent respiratory infections Joint hyperflexibility Delayed cranial suture closure Aortic regurgitation Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Truncus arteriosus Ulnar deviation of finger Bowel incontinence Language impairment Aortic aneurysm Sandal gap Smooth philtrum Oculomotor apraxia Coxa valga Pointed chin Recurrent urinary tract infections Bowing of the long bones Premature birth Short distal phalanx of finger Short palm Long face Arachnodactyly Aplasia/Hypoplasia of the eyebrow Broad hallux Leukodystrophy Blue irides Microcolon White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction Ileus White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Abnormal eyebrow morphology Decreased lacrimation Hypopigmentation of hair Congenital nystagmus Premature graying of hair Intestinal obstruction Portal hypertension Decreased nerve conduction velocity CNS hypomyelination Anosmia Hypopigmented skin patches Abnormal autonomic nervous system physiology Cerebral dysmyelination Spotty hyperpigmentation Deep philtrum Abnormality of the foot Delayed gross motor development Scrotal hypoplasia Shock Ventricular tachycardia Low anterior hairline Sparse and thin eyebrow Long eyelashes Waddling gait Small hand Tachycardia Lethargy Peripheral hypomyelination Proptosis Recurrent infections Cerebral atrophy Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Self-injurious behavior Difficulty walking Thick lower lip vermilion Hand polydactyly Exocrine pancreatic insufficiency Foot polydactyly Tarsal synostosis Open bite Preaxial hand polydactyly Cone-shaped epiphysis Chronic otitis media Brittle hair Hypoplasia of the zygomatic bone Reduced bone mineral density Abnormality of dental enamel Multicystic kidney dysplasia Short toe Abnormality of the face Postaxial hand polydactyly Dandy-Walker malformation Hypodontia Abnormality of the skull Broad alveolar ridges Finger syndactyly Apnea Inability to walk Wide nose Confusion Abnormality of movement Muscular dystrophy Paralysis Mental deterioration Rigidity Accessory oral frenulum Kyphoscoliosis Dementia Hypospadias Long philtrum Intellectual disability, mild Odontogenic neoplasm Lip pit Hamartoma of tongue Dry skin Hydronephrosis Apraxia Oral cleft Polycystic kidney dysplasia Cutaneous syndactyly Hepatic fibrosis Hypoplasia of dental enamel Bifid uvula Postaxial polydactyly Stage 5 chronic kidney disease Carious teeth Molar tooth sign on MRI Abnormality of the cerebral white matter Abnormality of the kidney Cleft lip Polydactyly Abnormal heart morphology Syndactyly Hydrocephalus Dysarthria Radial deviation of finger Agenesis of permanent teeth Elevated hepatic transaminase Hepatic cysts Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Narrow naris Porencephalic cyst Nephronophthisis Dry hair Ovarian cyst Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Increased number of teeth Atrioventricular canal defect Short foot Intellectual disability, profound Short palpebral fissure Triangular face Adducted thumb Hyperammonemia Opacification of the corneal stroma Wormian bones Congenital hip dislocation Wide anterior fontanel Decreased fetal movement Joint hypermobility Poor suck Abnormality of skin pigmentation Corneal opacity Scarring Protruding ear Umbilical hernia High forehead Mandibular prognathia Respiratory failure Hyperextensible skin Mild short stature Severe short stature Overlapping fingers Gait disturbance Prominent superficial blood vessels Hypoargininemia Polar cataract Corneal arcus Wide cranial sutures Calcaneovalgus deformity Premature skin wrinkling Multiple joint contractures Progeroid facial appearance Severe failure to thrive Severe intrauterine growth retardation Subcapsular cataract Prematurely aged appearance Thin ribs Reduced subcutaneous adipose tissue Neurodevelopmental delay Brachycephaly Patent ductus arteriosus Progressive neurologic deterioration Alzheimer disease Bruxism Hyperventilation Progressive encephalopathy Loss of speech Overweight Thoracic scoliosis Prolonged QT interval Aplasia/Hypoplasia of the cerebellum Developmental stagnation Cachexia Abnormality of the metacarpal bones Cerebral palsy Accelerated skeletal maturation Abnormality of the fingernails Paraparesis Truncal ataxia Nephrolithiasis Alkalosis Motor deterioration Visual loss Hypocapnia Pectus excavatum Vomiting Respiratory insufficiency Talipes equinovarus Hyperreflexia Cataract Gait apraxia Nonprogressive encephalopathy Astrocytosis Intermittent hyperventilation Abnormality of the antitragus Respiratory alkalosis Short distal phalanx of the thumb Abnormal muscle tone Prolonged QTc interval Esodeviation Abnormal T-wave Branchial fistula



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