Ataxia, and Smooth philtrum

Diseases related with Ataxia and Smooth philtrum

In the following list you will find some of the most common rare diseases related to Ataxia and Smooth philtrum that can help you solving undiagnosed cases.


Top matches:

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME


Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

Medium match AMELOCEREBROHYPOHIDROTIC SYNDROME


Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

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Other less relevant matches:

Medium match ADENYLOSUCCINATE LYASE DEFICIENCY


Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Medium match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Medium match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Medium match DPM1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Medium match WRINKLY SKIN SYNDROME


Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome|wss

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WRINKLY SKIN SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Smooth philtrum

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Smooth philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum Gait ataxia Growth delay Abnormal facial shape Strabismus Failure to thrive Cerebral atrophy Absent speech Delayed speech and language development Cryptorchidism Motor delay Short stature Narrow palate Progressive microcephaly Encephalopathy Spasticity Epicanthus Depressed nasal bridge Severe global developmental delay Anteverted nares Scoliosis Hearing impairment Nystagmus Feeding difficulties Upslanted palpebral fissure Hypertelorism Downslanted palpebral fissures High palate

Rare Symptoms - Less than 30% cases


Hypertonia Tremor Dental crowding Pain Micrognathia Low-set ears Central hypothyroidism Hypospadias Hyperactivity Edema Brachydactyly Kyphosis Flat occiput Cerebellar atrophy Postnatal microcephaly High myopia Wide nasal bridge Intrauterine growth retardation Hypothyroidism Infantile muscular hypotonia Scapular winging Microdontia Dental malocclusion Syndactyly Recurrent infections Hernia Inguinal hernia Dandy-Walker malformation Febrile seizures Delayed eruption of teeth Muscular hypotonia Carious teeth Sparse hair Protruding ear Pes planus Osteopenia Macrotia Camptodactyly Hypogonadism Stroke Hypermetropia Joint laxity Posteriorly rotated ears Behavioral abnormality Hypoplasia of the corpus callosum Inability to walk Broad nasal tip Intellectual disability, severe Cerebellar hypoplasia EEG abnormality Mental deterioration Unsteady gait Developmental regression Abnormal cardiac septum morphology Aggressive behavior Cerebellar vermis hypoplasia Progressive neurologic deterioration Abnormal heart morphology Hypsarrhythmia Peripheral neuropathy Hand tremor Hypoplasia of the fovea Action tremor Ectopia pupillae Hyposmia Macular hypoplasia Peters anomaly Hypoplasia of the iris Limb hypertonia Decreased light- and dark-adapted electroretinogram amplitude Ocular pain Abnormal glucose tolerance Lower limb hypertonia Retinal vascular tortuosity Attention deficit hyperactivity disorder Central adrenal insufficiency Vascular tortuosity Hypoplasia of the antihelix Flexion contracture Reduced visual acuity Increased proinsulin:insulin ratio High forehead High nonceruloplasmin-bound serum copper Rigidity Short nail Muscular hypotonia of the trunk Abnormal isoelectric focusing of serum transferrin Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Palmoplantar cutis laxa Premature rupture of membranes Hypopituitarism Aniridia Prominent nasolabial fold Adrenal insufficiency Hypopigmentation of the skin Fragmented elastic fibers in the dermis Renal dysplasia Recurrent urinary tract infections Choanal atresia Multiple plantar creases Microcornea Retinal detachment Exotropia Polymicrogyria Excessive skin wrinkling on dorsum of hands and fingers Falls Small, conical teeth Coloboma Arachnodactyly Amblyopia Type I diabetes mellitus Albinism Anosmia Congenital cataract Anophthalmia Nephroblastoma Ectopia lentis Bilateral ptosis Prominent veins on trunk Abnormality of the intrinsic pathway Slender long bones with narrow diaphyses Hypertension Abnormality of the cheek Thick cerebral cortex Atrial septal dilatation Multiple palmar creases Intellectual disability, moderate Opacification of the corneal stroma Optic nerve hypoplasia Decreased muscle mass Hepatomegaly Abnormal macular morphology Pectus excavatum Dilatation Abnormality of the dentition Talipes equinovarus Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Hypoglycosylation of alpha-dystroglycan Umbilical hernia Pontocerebellar atrophy Type I transferrin isoform profile Abnormal myelination Deep palmar crease Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Kyphoscoliosis Postnatal growth retardation Weak cry Fragile nails Lipodystrophy Nasal speech Slurred speech Cutis laxa Delayed cranial suture closure Slender long bone Coxa vara Wormian bones Generalized joint laxity Congenital hip dislocation Wide anterior fontanel Premature skin wrinkling Status epilepticus Progressive cerebellar ataxia Joint hypermobility Hip dislocation Ankle contracture Lower limb hyperreflexia Deep plantar creases Prominent forehead Retinopathy Apnea Abnormality of the eye Delayed closure of the anterior fontanelle Recurrent sinopulmonary infections Elevated hepatic transaminase Hypoplasia of the musculature Elevated serum creatine phosphokinase Prominent nasal bridge Patent ductus arteriosus Splenomegaly Excessive wrinkled skin Myopathy Emphysema Respiratory distress Optic atrophy Abnormal pyramidal sign Muscular dystrophy Glaucoma Truncal ataxia Increased variability in muscle fiber diameter Trigonocephaly Poor suck Abnormality of vision Hemangioma Venous thrombosis Knee flexion contracture Cerebral visual impairment Dysmetria Decreased liver function Telangiectasia Intention tremor Nail dysplasia Delayed myelination Small hand High, narrow palate Short palm Micropenis Accelerated bone age after puberty Diabetes mellitus Poor eye contact Cerebral hypomyelination Short attention span Self-mutilation Epileptic spasms Prominent metopic ridge Cerebellar vermis atrophy Opisthotonus Inappropriate laughter Brisk reflexes Impulsivity CNS hypomyelination Stereotypy Apraxia Generalized-onset seizure Wide mouth Happy demeanor Hypointensity of cerebral white matter on MRI Brachycephaly Postaxial polydactyly Acute hepatic failure Hyperammonemia Pancreatitis Thick lower lip vermilion Aciduria Gliosis Coma Hepatic failure Vomiting Confusion Lethargy Irritability Carcinoma Polydactyly Abnormality of cardiovascular system morphology Headache Autism Myoclonus Episodic ataxia Broad-based gait Syringomyelia Delayed ability to walk Onion bulb formation Decreased number of peripheral myelinated nerve fibers Failure to thrive in infancy Decreased nerve conduction velocity Sensory impairment Demyelinating peripheral neuropathy Triangular face Wide nose Distal sensory impairment Poor speech Abnormality of the foot Constipation Areflexia Chronic constipation Neurological speech impairment Short nose Hypoplasia of dental enamel Skeletal muscle atrophy Yellow-brown discoloration of the teeth Abnormality of dental color Amelogenesis imperfecta Coarse hair Abnormality of dental enamel Hypohidrosis Broad thumb Spastic diplegia Intellectual disability, profound Epileptic encephalopathy Focal-onset seizure Dementia Hydrocephalus Ventriculomegaly Exudative vitreoretinopathy Alkalosis Cerebral edema Agenesis of corpus callosum Swelling of proximal interphalangeal joints Osteoporosis Rod-cone dystrophy Clinodactyly Myopia Anemia Ivory epiphyses of the distal phalanges of the hand Cone-shaped epiphyses of the proximal phalanges of the hand Mandibular prognathia Chin with horizontal crease Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Flat capital femoral epiphysis Narrow mouth Polyhydramnios Leukonychia Spondyloepiphyseal dysplasia Visual loss Microphthalmia Blindness Ptosis Cataract Neoplasm Mild microcephaly Cutaneous syndactyly Gastroesophageal reflux Microretrognathia Decreased testicular size Tapered finger Single transverse palmar crease Toe syndactyly Dolichocephaly Neonatal hypotonia Pseudohypoparathyroidism Thin eyebrow Episodic vomiting Low plasma citrulline Low-set, posteriorly rotated ears Arthralgia Recurrent respiratory infections Alopecia Delayed skeletal maturation Abnormality of the skeletal system Dysarthria Episodic ammonia intoxication Pectus carinatum Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Hyperlordosis Spastic paraplegia Concave nail Cone-shaped epiphysis Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Deep philtrum Hypotrichosis Short metatarsal Osteoarthritis Sparse scalp hair Fine hair Short metacarpal Bulbous nose Paraplegia Neonatal wrinkled skin of hands and feet



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thin upper lip vermilion, related diseases and genetic alterations Intrauterine growth retardation and Hyperinsulinemia, related diseases and genetic alterations Edema and Thrombocytopenia, related diseases and genetic alterations Myopathy and Decreased fetal movement, related diseases and genetic alterations Failure to thrive and Full cheeks, related diseases and genetic alterations Nystagmus and Hypertrophic cardiomyopathy, related diseases and genetic alterations

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