Cleft palate, and Cerebral atrophy

Diseases related with Cleft palate and Cerebral atrophy

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


Top matches:

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Low match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

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

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Other less relevant matches:

Low match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match KABUKI SYNDROME


Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Low match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

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

Top 5 symptoms//phenotypes associated to Cleft palate and Cerebral atrophy

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

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Short nose

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Cerebral cortical atrophy

Common Symptoms - More than 50% cases


Posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Agenesis of corpus callosum Abnormal facial shape Cryptorchidism Hypertelorism Short stature Wide nasal bridge Ventriculomegaly Polydactyly Polyhydramnios Hypoplasia of the corpus callosum Anteverted nares Sensorineural hearing impairment Muscular hypotonia of the trunk Hearing impairment Wide nose Cataract Growth delay Brachydactyly Scoliosis Congenital diaphragmatic hernia Ptosis Atrial septal defect Flat face Feeding difficulties Toe syndactyly Single transverse palmar crease Frontal bossing Depressed nasal bridge Narrow forehead Absent speech Hydronephrosis Abnormal cardiac septum morphology Macrotia Hypospadias Muscular hypotonia Nystagmus Hernia Brachycephaly Clinodactyly Cleft lip Intrauterine growth retardation Spasticity High forehead Tented upper lip vermilion Retrognathia Pulmonary hypoplasia Upslanted palpebral fissure Short distal phalanx of finger

Rare Symptoms - Less than 30% cases


Midface retrusion Hydrocephalus Hypertonia Skeletal dysplasia Foot polydactyly Microretrognathia Deeply set eye Prominent nasal bridge Sacral dimple Delayed CNS myelination Macrocephaly Overfolded helix Open mouth Thick upper lip vermilion Hepatic fibrosis Renal dysplasia Abnormality of the cardiovascular system Abnormality of upper lip Specific learning disability High, narrow palate Abnormality of the kidney Prominent forehead Inguinal hernia Neoplasm Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Prominent occiput Thin vermilion border Preaxial hand polydactyly Bifid uvula EEG abnormality Conductive hearing impairment Protruding ear Coloboma Oral cleft Microcornea Hypoplasia of penis Anal atresia Postaxial polydactyly Finger syndactyly Renal hypoplasia/aplasia Short middle phalanx of finger Epiphyseal stippling Abnormality of the pinna Polysplenia Smooth philtrum Hamartoma Short 5th finger Severe short stature Patent foramen ovale Dandy-Walker malformation Abnormality of the dentition Severe global developmental delay Ichthyosis Brain atrophy Poor speech Limb undergrowth Malar flattening Abnormality of metabolism/homeostasis Oligohydramnios Vesicoureteral reflux Aggressive behavior Intellectual disability, severe Delayed myelination Motor delay Thin upper lip vermilion Ventricular septal defect Sclerocornea Joint contracture of the hand Delayed eruption of teeth Spastic gait Anterior hypopituitarism Decreased fetal movement Abnormality of the hypothalamus-pituitary axis Heterotopia Omphalocele Pachygyria Abnormality of neuronal migration Lissencephaly Cavum septum pellucidum Bitemporal hollowing Midline brain calcifications Type I lissencephaly Pelvic kidney Decerebrate rigidity Agyria Recurrent aspiration pneumonia Deep palmar crease Infantile muscular hypotonia Duodenal atresia Premature skin wrinkling Microglossia Infantile spasms Progressive spastic paraplegia Spastic diplegia Paraplegia Deep philtrum Nephropathy Anterior pituitary hypoplasia Spastic paraplegia Small sella turcica Nephroblastomatosis Thymus hyperplasia Fetal ascites Flexion contracture of thumb Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Naevus flammeus of the eyelid Intestinal atresia Femoral hernia Interrupted aortic arch Visceromegaly Thickened helices Hypoxemia Volvulus Abnormality of pancreas morphology Hypoplasia of the abdominal wall musculature Postnatal growth retardation Prominent xiphoid process Lambdoidal craniosynostosis Camptodactyly Abnormal heart morphology Dysphagia Downslanted palpebral fissures Ataxia Abnormality of the cervical spine Distal ileal atresia Small scrotum Ileal atresia Nephrogenic rest Female hypogonadism Inferior vermis hypoplasia Orbital cyst Uplifted earlobe Renal hamartoma Talipes equinovarus Rectal atresia Pectus excavatum Median cleft lip Cerebellar hypoplasia Micropenis Abnormality of the tongue Hypothyroidism Renal neoplasm Rectovaginal fistula Short tibia Craniosynostosis Porencephalic cyst Primary adrenal insufficiency Submucous cleft hard palate Facial asymmetry Occipital encephalocele Abnormal joint morphology Iris coloboma Retinal dystrophy Microphthalmia Blindness Short finger Hamartoma of tongue Cerebral cortical hemiatrophy Bilateral lung agenesis Perineal fistula Aplasia/Hypoplasia of the mandible Aplasia/Hypoplasia of the tibia Oral synechia Tongue nodules Lobulated tongue Myopia Abnormal oral frenulum morphology Abnormality of the gingiva Microtia, third degree Accessory oral frenulum Monorchism Absent crus of helix Abnormal oral mucosa morphology Subcortical cerebral atrophy Nail dysplasia Abnormality of the ear Recurrent respiratory infections Postaxial foot polydactyly Ambiguous genitalia Anophthalmia Postaxial hand polydactyly Decreased testicular size Bifid scrotum Renal agenesis Broad palm Renal cyst Proximal placement of thumb Micromelia Talipes Abnormality of eye movement Adrenal hypoplasia Short philtrum Absent testis Proptosis Interphalangeal joint contracture of finger Chorioretinal coloboma Mesomelia Short ribs Hypoplastic toenails High myopia Hand polydactyly Genu varum Laryngomalacia Abnormality of the outer ear Joint dislocation Bowing of the long bones Aplasia/Hypoplasia of the corpus callosum Encephalocele Renal hypoplasia Split hand Choanal atresia Depressed nasal ridge Abnormal vertebral morphology Severe muscular hypotonia Plagiocephaly Camptodactyly of finger Coarse facial features Capillary hemangioma Multiple epiphyseal dysplasia Syndactyly Congestive heart failure Abnormality of the skeletal system Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Concave nasal ridge Low-set, posteriorly rotated ears Severe failure to thrive Sparse body hair Flared metaphysis Congenital contracture Epiphyseal dysplasia Spina bifida occulta Rhizomelia Hyperactivity Long face Abnormality of the metaphysis Ectopic kidney Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Long fingers Broad hallux Overlapping toe Bulbous nose 2-3 toe syndactyly Self-injurious behavior Narrow palpebral fissure Aortic valve stenosis Wide intermamillary distance Esotropia Hypopigmentation of the skin Thick vermilion border Abnormality of epiphysis morphology Limitation of joint mobility Olivopontocerebellar hypoplasia Optic atrophy Ventricular hypertrophy Sloping forehead Hypoplasia of the maxilla Downturned corners of mouth Small for gestational age Intellectual disability, moderate Myoclonus Delayed speech and language development Tetraparesis Mild microcephaly Hyperphosphatemia Elevated alkaline phosphatase Absence seizures Aganglionic megacolon Broad nasal tip Intellectual disability, mild Small nail Wide anterior fontanel Polymicrogyria Pain Dry skin Pulmonic stenosis Congenital cataract Kyphoscoliosis Alopecia Respiratory insufficiency Flexion contracture Abnormal hair whorl Progressive microcephaly Hemiclonic seizures Capillary malformation Right ventricular hypertrophy Central hypotonia Long palpebral fissure Cortical gyral simplification Spastic tetraparesis Short toe Hypoplastic aortic arch Strabismus Enlarged kidney Limb hypertonia Edema Respiratory distress Hepatomegaly Large fleshy ears Hoarse cry Vertical nystagmus Hydrocele testis Anal stenosis Hepatosplenomegaly Cystic hygroma Cupped ear Focal impaired awareness seizure Abnormality of the urinary system Amblyopia Choreoathetosis Focal-onset seizure Renal insufficiency Hyperlordosis Synophrys Bilateral single transverse palmar creases Neurodevelopmental delay Global brain atrophy Large for gestational age Nephroblastoma Hyperinsulinemia Polycystic kidney dysplasia Growth abnormality Tall stature Dolichocephaly Status epilepticus Lumbar hyperlordosis Cardiomegaly Overgrowth Round face Macroglossia Abdominal distention Ascites Short foot Wide mouth Recurrent infections Abnormal form of the vertebral bodies Abnormality of dental morphology Precocious puberty Widely spaced teeth Abnormal dermatoglyphics Hemivertebrae Preauricular skin tag Long eyelashes Blue sclerae Abnormality of immune system physiology Coarctation of aorta Microdontia Hypodontia Highly arched eyebrow Small hand Joint hyperflexibility Hip dislocation Obesity Mask-like facies Short columella Neonatal hypotonia Tremor Gastroesophageal reflux Hyporeflexia Patent ductus arteriosus Long philtrum Splenomegaly Cerebellar atrophy Short neck Hyperreflexia Sparse lateral eyebrow Eversion of lateral third of lower eyelids Lip pit Crossed fused renal ectopia Vertebral clefting Duplicated collecting system Butterfly vertebrae Ureteropelvic junction obstruction Abnormal localization of kidney Aplasia of the optic tract



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