Cleft palate, and Atrial septal defect

Diseases related with Cleft palate and Atrial septal defect

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


Top matches:

Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Low match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

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Other less relevant matches:

Low match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

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 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Low match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Low match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Top 5 symptoms//phenotypes associated to Cleft palate and Atrial septal defect

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Ventricular septal defect Narrow mouth Wide nasal bridge Hearing impairment Generalized hypotonia

Rare Symptoms - Less than 30% cases


Talipes equinovarus Tracheomalacia Scoliosis Broad nasal tip Bowing of the long bones Postaxial hand polydactyly Dandy-Walker malformation Aganglionic megacolon Hypoplastic left heart Polydactyly Autistic behavior Intellectual disability, mild Sensorineural hearing impairment Motor delay Posteriorly rotated ears Pulmonary hypoplasia Malar flattening Anal atresia Patent ductus arteriosus Ectopic anus Renal hypoplasia/aplasia Abnormality of the metacarpal bones Tarsal synostosis Postaxial foot polydactyly Muscle weakness Urogenital sinus anomaly Hypertelorism Hydrometrocolpos Cardiomyopathy Flexion contracture Glandular hypospadias Ptosis Urethral stricture Brachydactyly Multicystic kidney dysplasia Laryngeal hypoplasia Transposition of the great arteries Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Abnormality of the outer ear Hypoplasia of the epiglottis Alobar holoprosencephaly Tetralogy of Fallot Myopathy Aglossia Synotia Failure to thrive High palate Atresia of the external auditory canal Hydronephrosis Finger syndactyly Proboscis Generalized muscle weakness Congestive heart failure Overgrowth Mitochondrial depletion Respiratory insufficiency Inguinal hernia Severe short stature Umbilical hernia Joint stiffness Narrow chest Micromelia Flat face Blue sclerae Increased endomysial connective tissue Depressed nasal ridge Abnormality of the metaphysis Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Minicore myopathy Abnormal levels of creatine kinase in blood Arrhythmia Webbed neck Elevated serum creatine phosphokinase Neonatal hypotonia Facial palsy Abnormal cardiac septum morphology Hip dislocation Muscular dystrophy Dilated cardiomyopathy Arthrogryposis multiplex congenita Situs inversus totalis Knee flexion contracture Left ventricular noncompaction Radioulnar synostosis Congenital muscular dystrophy Calf muscle hypertrophy Myopathic facies Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Difficulty running Ankle contracture Cleft soft palate Holoprosencephaly Low-set ears Hypotelorism Cleft lip Agenesis of cerebellar vermis Bile duct proliferation Meningoencephalocele Delayed speech and language development Upslanted palpebral fissure Autism Pes planus Synophrys Anencephaly Oral cleft Cleft upper lip Long face Decreased testicular size Sloping forehead Low posterior hairline Nasal speech Prominent supraorbital ridges Meningocele Occipital encephalocele Large hands Bulbous nose Strabismus Feeding difficulties Abnormality of the dentition Hypermetropia Thin vermilion border Coarctation of aorta Arachnodactyly Cupped ear Molar tooth sign on MRI Intrauterine growth retardation Hypoplasia of the corpus callosum Hydrocephalus Microphthalmia Postaxial polydactyly Renal cyst Encephalocele Renal dysplasia Preaxial polydactyly Preaxial hand polydactyly Intestinal malrotation Abnormal facial shape Tethered cord Butterfly vertebrae Spinal dysraphism Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Laryngeal web Downslanted palpebral fissures Lipoma Respiratory distress Abnormal heart morphology Agenesis of corpus callosum Polyhydramnios Retrognathia Conductive hearing impairment Abnormality of the eye Hypoplasia of the maxilla Mitral stenosis Aortic valve stenosis Slender finger Absent speech Thoracic kyphosis Bilateral cleft lip Bilateral cleft lip and palate Long toe Seizures Intellectual disability, severe Short nose Cerebral atrophy Poor speech Renal hypoplasia Brain atrophy Absence seizures Tented upper lip vermilion Elevated alkaline phosphatase Hyperphosphatemia Mild microcephaly Talipes Bifid uvula Anisospondyly



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