Cleft palate, and Leukodystrophy

Diseases related with Cleft palate and Leukodystrophy

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


Top matches:

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Low match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Low match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

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Other less relevant matches:

Low match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match MULTIPLE SULFATASE DEFICIENCY


Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Low match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Low match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Low match ZELLWEGER SYNDROME


Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Low match OROFACIODIGITAL SYNDROME XVII; OFD17


OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

Low match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Top 5 symptoms//phenotypes associated to Cleft palate and Leukodystrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
High palate Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Leukodystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Spasticity

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Sensorineural hearing impairment Ventriculomegaly Cataract Low-set ears Anteverted nares Epicanthus Muscular hypotonia Abnormal facial shape Wide nasal bridge Prominent forehead Micrognathia Cerebral atrophy Depressed nasal bridge Delayed speech and language development Optic atrophy Ichthyosis Respiratory insufficiency Cryptorchidism Hypertelorism Posteriorly rotated ears Ataxia Microphthalmia Midface retrusion Flat face Macrocephaly Hepatomegaly Malar flattening Agenesis of corpus callosum High forehead Rhizomelia Epiphyseal stippling Hyperreflexia Aplasia/Hypoplasia of the corpus callosum High, narrow palate Abnormality of the cerebral white matter Retrognathia Polymicrogyria Cleft lip Severe muscular hypotonia Hypoplasia of the corpus callosum Developmental regression Delayed CNS myelination Feeding difficulties Cognitive impairment Acidosis

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Pachygyria Hyporeflexia Ventricular septal defect Increased CSF protein Renal cyst Hydrocephalus Wide anterior fontanel Renal hypoplasia Single transverse palmar crease Convex nasal ridge Short neck Narrow forehead Dysphagia Frontal bossing Abnormal pyramidal sign Pulmonary hypoplasia Muscular hypotonia of the trunk Polyhydramnios Corneal opacity Respiratory failure Absent speech Jaundice Congenital cataract Hand clenching Stage 5 chronic kidney disease Abnormality of the skeletal system Edema Intellectual disability, severe Hyperoxaluria Dysmetria Hypospadias Prominent metopic ridge Peripheral demyelination Facial palsy Very long chain fatty acid accumulation Adrenal hypoplasia Leukoencephalopathy Upslanted palpebral fissure Cerebral cortical atrophy Brain atrophy Encephalopathy Tetraplegia EEG abnormality Cerebellar atrophy Abnormality of epiphysis morphology Polydactyly Cerebellar hypoplasia Micropenis Hypothyroidism Neonatal hypotonia Camptodactyly Coloboma Large fontanelles Scoliosis Intrauterine growth retardation Pregnancy exposure Inferior vermis hypoplasia Female hypogonadism Abnormality of the cervical spine Orbital cyst Talipes equinovarus Uplifted earlobe Areflexia Feeding difficulties in infancy Hydronephrosis Elevated hepatic transaminase Skeletal dysplasia Glaucoma Delayed skeletal maturation Visual loss Flared metaphysis Patent ductus arteriosus Renal insufficiency Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Small scrotum Anterior pituitary hypoplasia Anophthalmia Lambdoidal craniosynostosis Macrotia Postaxial polydactyly Iris coloboma Facial asymmetry Toe syndactyly Finger syndactyly Craniosynostosis Protruding ear Concave nasal ridge Bifid uvula Brachycephaly Multiple epiphyseal dysplasia Coronal cleft vertebrae Bilateral cleft palate Calcific stippling of infantile cartilaginous skeleton Clinodactyly of the 5th finger Blindness Myopia Microcornea Nail dysplasia Anterior hypopituitarism Preaxial hand polydactyly Abnormality of the hypothalamus-pituitary axis Sclerocornea Microglossia Postaxial foot polydactyly Foot polydactyly Broad palm Short middle phalanx of finger Sparse body hair Severe failure to thrive High myopia Bifid scrotum Brachydactyly Proximal placement of thumb Chorioretinal coloboma Plagiocephaly Polysplenia Microretrognathia Abnormal vertebral morphology Retinal dystrophy Abnormality of coagulation Malabsorption Intrahepatic biliary dysgenesis Short ribs Decreased body weight Tetralogy of Fallot Dental malocclusion Prominent nose Narrow chest Clinodactyly Hypoplastic olfactory lobes Sudanophilic leukodystrophy Abnormality of digit Elevated long chain fatty acids Subependymal cysts Brushfield spots Renal cortical microcysts Albuminuria Abnormal chorioretinal morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Widely patent fontanelles and sutures CNS hypomyelination Inverted nipples Intestinal lymphangiectasia Sepsis Widow's peak Hyperactive deep tendon reflexes Poor eye contact Prominent occiput Global brain atrophy Thick lower lip vermilion Cerebellar vermis hypoplasia Interphalangeal joint contracture of finger Dandy-Walker malformation Everted lower lip vermilion Median cleft lip Camptodactyly of finger Abnormal cardiac septum morphology Gastroesophageal reflux Central Y-shaped metacarpal Short middle phalanx of the 2nd finger Short 2nd finger Partial duplication of thumb phalanx Bifid tongue Clubbing of fingers Glutaric aciduria Brachyturricephaly Hepatic failure Multicystic kidney dysplasia Cubitus valgus Pyloric stenosis Polycystic kidney dysplasia Abnormal electroretinogram Reduced tendon reflexes Intellectual disability, progressive Opacification of the corneal stroma Nephrocalcinosis Aminoaciduria Decreased liver function Rocker bottom foot Hypoplasia of dental enamel Heterotopia Cholestasis Optic disc pallor Pigmentary retinopathy Aciduria Premature birth Round face Macroglossia Clitoral hypertrophy Flat occiput Abnormality of the tongue Thickened nuchal skin fold Hepatic cysts Tapetoretinal degeneration Ulnar deviation of the hand Profound global developmental delay Abnormality of the mitochondrion Labial hypoplasia Redundant neck skin Abnormality of the helix Breech presentation Bell-shaped thorax Metatarsus adductus Posterior embryotoxon External ear malformation Primary adrenal insufficiency Underdeveloped supraorbital ridges Protruding tongue Prolonged neonatal jaundice Congenital glaucoma Epiphyseal dysplasia Abnormality of neuronal migration Congenital contracture Skin rash Spina bifida occulta Respiratory tract infection Progressive muscle weakness Nephrolithiasis Abnormality of the face Esotropia Cirrhosis Dolichocephaly Nyctalopia Retinopathy Postnatal growth retardation Spinal muscular atrophy Osteoporosis Rod-cone dystrophy Arrhythmia Behavioral abnormality Cardiomyopathy Skeletal muscle atrophy Hypertensive crisis Diffuse mesangial sclerosis Hepatic fibrosis Impulsivity Cortical gyral simplification Tremor Diabetes mellitus Hyperhidrosis Dementia Constipation Depressivity Kyphosis Vomiting Gait disturbance Dysarthria Constriction of peripheral visual field Hypertension Motor delay Ptosis Muscle weakness Elevated levels of phytanic acid Progressive spinal muscular atrophy Hypocholesterolemia Severe hearing impairment Corpus callosum atrophy Hypoplastic left heart Osteopenia Tetraparesis Pendular nystagmus Loss of speech Episodic fever Opisthotonus Agitation Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Spastic tetraparesis Spastic tetraplegia Primitive reflex Wide intermamillary distance Metabolic acidosis Lactic acidosis Arthrogryposis multiplex congenita Irritability Recurrent infections Myopathy Respiratory distress Severe lactic acidosis Psychomotor deterioration Focal segmental glomerulosclerosis Sloping forehead Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Postnatal microcephaly Coarctation of aorta Nephrotic syndrome Oligohydramnios Arachnodactyly Diffuse leukoencephalopathy Hip dislocation Proteinuria Deeply set eye Narrow mouth Pectus excavatum Downslanted palpebral fissures Strabismus Progressive leukoencephalopathy Frontoparietal polymicrogyria Weight loss Hyperlordosis Abnormality of the metaphysis Lower limb hyperreflexia Periorbital edema CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Developmental stagnation Large forehead Dysostosis multiplex Abnormality of the periventricular white matter Broad hallux Mucopolysacchariduria Coarse hair Abnormality of retinal pigmentation Broad thumb Progressive neurologic deterioration Neurodegeneration Thick eyebrow Retinal degeneration Smooth philtrum Abnormality of peripheral nerve conduction Hypoplastic vertebral bodies Mental deterioration Severe short stature Congenital diaphragmatic hernia Limb undergrowth Limitation of joint mobility Short distal phalanx of finger Dry skin Pulmonic stenosis Severe global developmental delay Kyphoscoliosis Alopecia Retrocerebellar cyst Hernia Abnormality of metabolism/homeostasis Abnormality of the dentition Atrial septal defect Flexion contracture Pain Rapid neurologic deterioration Urinary glycosaminoglycan excretion Joint stiffness Hepatosplenomegaly Cough Cerebral calcification Precocious puberty Encephalitis Dysphonia Sleep apnea Abnormal autonomic nervous system physiology Muscle stiffness Clonus Diplopia Amenorrhea Oral-pharyngeal dysphagia Hypotension Chorea Gliosis Sudden cardiac death Sleep disturbance Abnormality of eye movement Nausea and vomiting Neurological speech impairment Self-injurious behavior Emotional lability Coarse facial features Hypersomnia Splenomegaly Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Aqueductal stenosis Dysphasia Bulbar signs Hypothermia Megalencephaly Poor coordination Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Interrupted aortic arch



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