Ataxia, and Cleft upper lip

Diseases related with Ataxia and Cleft upper lip

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


Top matches:

Low match MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

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Other less relevant matches:

Low 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

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Low match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Low match WOLF-HIRSCHHORN SYNDROME


Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Cleft upper lip

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Cleft upper lip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Epicanthus Hypertelorism Nystagmus Micropenis High palate Cryptorchidism Hypospadias Microcephaly Short stature Intellectual disability, severe Agenesis of corpus callosum Hearing impairment Generalized hypotonia Strabismus Downslanted palpebral fissures Growth delay Abnormal facial shape Hernia Preaxial hand polydactyly Failure to thrive Prominent nasal bridge Wide nasal bridge Intellectual disability, moderate Hyperactivity Brachydactyly Attention deficit hyperactivity disorder Hypertension Small for gestational age Long face Abnormality of the dentition Tapered finger Short philtrum Molar tooth sign on MRI Facial asymmetry Dandy-Walker malformation Absent speech Prominent nose Clinodactyly of the 5th finger Macrotia Muscular hypotonia Sloping forehead Low-set ears Clinodactyly Oral cleft Inguinal hernia Posteriorly rotated ears

Rare Symptoms - Less than 30% cases


Autism Gait ataxia Hypoplasia of the corpus callosum Foot polydactyly Ventriculomegaly Accessory oral frenulum Lobulated tongue Hamartoma of tongue Tongue nodules Delayed speech and language development Long philtrum Talipes equinovarus Syndactyly Abnormal cardiac septum morphology Aggressive behavior Abnormality of neuronal migration Abnormal heart morphology Polydactyly Low-set, posteriorly rotated ears Apnea Abnormality of the kidney Toe syndactyly Postaxial polydactyly Highly arched eyebrow Esotropia Finger clinodactyly Aplasia/Hypoplasia of the corpus callosum Preaxial polydactyly Partial agenesis of the corpus callosum Preaxial foot polydactyly Severe global developmental delay Optic atrophy Macrocephaly Short nose Abnormality of cardiovascular system morphology Anal atresia Abnormality of the nervous system Retrognathia Hand polydactyly Recurrent respiratory infections Intrauterine growth retardation External genital hypoplasia Open mouth Broad nasal tip Downturned corners of mouth Chronic otitis media Gait disturbance Ptosis Hydronephrosis Dilatation Cerebellar hypoplasia Finger syndactyly Hypothyroidism Hypodontia Bilateral cryptorchidism Growth hormone deficiency Tremor Renal agenesis Apraxia Delayed puberty Postaxial hand polydactyly Holoprosencephaly Sensorineural hearing impairment Abnormality of the face Tachypnea Choanal atresia Hypogonadism Oculomotor apraxia Abnormality of the immune system Abnormality of the vertebral column Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Megalocornea Ventricular septal defect Abnormal heart valve morphology Cerebral atrophy Abnormality of the pinna Disproportionate tall stature Coloboma Retinal dystrophy Thin vermilion border Smooth philtrum Broad forehead Abnormal form of the vertebral bodies Abnormality of the genital system Short thumb Abnormal vertebral morphology Prominent forehead Sacral dimple Hemangioma Postnatal growth retardation Abnormality of the urinary system Mesoaxial hand polydactyly Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Umbilical hernia Occipital meningocele Subvalvular aortic stenosis Hypoplasia of olfactory tract Aplasia/Hypoplasia of the nipples Renal dysplasia Cerebellar vermis hypoplasia Short hallux Abnormal cerebellum morphology Rib fusion Abdominal situs inversus Feeding difficulties in infancy Calvarial skull defect Aplasia cutis congenita of scalp Tethered cord Conductive hearing impairment Abnormality of the philtrum Abnormal lip morphology Abnormality of the gallbladder Rib segmentation abnormalities High anterior hairline Renal hypoplasia/aplasia Bulimia Short femur Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Abnormal oral frenulum morphology Abnormality of the mouth Bifid uvula Meningocele Polycystic kidney dysplasia Hamartoma Biparietal narrowing Tibial bowing Abnormal retinal morphology Radial deviation of finger Trigonocephaly Sclerocornea Aplasia/Hypoplasia of the lungs Diabetes insipidus Wide intermamillary distance Respiratory tract infection Joint hyperflexibility Pulmonic stenosis Kyphosis Delayed skeletal maturation Osteoporosis Proptosis Joint laxity Scoliosis High forehead Retinopathy Microtia Anxiety Thin upper lip vermilion Dolichocephaly Atrial septal defect Abnormality of skin pigmentation Patent ductus arteriosus Aspiration Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Horseshoe kidney Narrow face Aortic valve stenosis Everted lower lip vermilion Six lumbar vertebrae Anorexia Stereotypy Dental crowding Pulmonary arterial hypertension Psychosis Single transverse palmar crease Gastroesophageal reflux Abnormality of the foot Omphalocele Split hand Hypopigmentation of the fundus Hypoplasia of teeth Rectovaginal fistula Diastasis recti Postaxial foot polydactyly Arachnoid cyst Anencephaly Low posterior hairline Abnormality of digit Prominent occiput Broad face Microretrognathia Spontaneous abortion Preauricular skin tag Wide anterior fontanel Triangular mouth Abnormal pulmonary valve morphology Abnormality of movement Decreased fetal movement Arachnodactyly Pectus excavatum Iris coloboma Depressivity Microphthalmia Behavioral abnormality Cognitive impairment Cerebral hypoplasia Congenital diaphragmatic hernia Cataract Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Pectus carinatum Recurrent urinary tract infections Fever Reduced bone mineral density Exocrine pancreatic insufficiency Tarsal synostosis Milia Open bite Cone-shaped epiphysis Brittle hair Coarse hair Abnormality of dental enamel Abnormality of the skull Multicystic kidney dysplasia Short toe Underdeveloped nasal alae Dry skin Sparse hair Telecanthus Proteinuria Elevated hepatic transaminase Median cleft lip Hypoplasia of the zygomatic bone Renal insufficiency Obesity Muscular hypotonia of the trunk Hypoglycemia EEG abnormality Difficulty walking Acidosis Diabetes mellitus Babinski sign Hypertonia Abnormality of the pancreas Myopia Hyperreflexia Spasticity Odontogenic neoplasm Lip pit Broad alveolar ridges Deviation of finger Pancreatic cysts Alopecia Dystonia Lactic acidosis Hypogonadotrophic hypogonadism Abnormal renal morphology Hyposmia Sparse pubic hair Anodontia Unilateral renal agenesis Anosmia Azoospermia Gynecomastia Testicular atrophy Hypotelorism Decreased testicular size Ichthyosis Abnormality of eye movement Abnormality of the eye Pes cavus Lobar holoprosencephaly Cortical gyral simplification Microphallus Bimanual synkinesia Abnormality of the skeletal system Recurrent infections Inferior vermis hypoplasia Ectopic posterior pituitary Central hypothyroidism Panhypopituitarism Bilateral ptosis Recurrent upper respiratory tract infections Cone/cone-rod dystrophy Anteverted nares Bilateral renal agenesis Total anosmia Leydig cell insensitivity to gonadotropin Decreased circulating follicle stimulating hormone level Hypothalamic gonadotropin-releasing hormone deficiency Olfactory lobe agenesis Decreased circulating luteinizing hormone level Alobar holoprosencephaly Eunuchoid habitus Poor speech Inability to walk Progressive vitiligo Non-midline cleft lip Acute lymphoblastic leukemia Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Combined immunodeficiency Acute leukemia Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Hearing abnormality Abnormal eyelid morphology Telangiectasia Pollakisuria Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma B lymphocytopenia Recurrent bronchitis Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Cafe-au-lait spot Bronchiectasis Thick vermilion border Drooling Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Large earlobe Depressed nasal tip Agitation Widely spaced teeth Muscle weakness Pancreatitis Spastic tetraparesis Progressive microcephaly Lower limb spasticity Tetraparesis Hypoplasia of penis Round face Full cheeks Neoplasm Depressed nasal bridge Chronic diarrhea Leukemia Primary amenorrhea Cutaneous photosensitivity Amenorrhea Convex nasal ridge Otitis media Lymphoma Neurodegeneration Hemolytic anemia Mental deterioration Skeletal muscle atrophy Respiratory failure Upslanted palpebral fissure Pneumonia Thrombocytopenia Immunodeficiency Diarrhea Respiratory insufficiency Short neck Hypoplastic pubic rami



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