Cleft palate, and Recurrent respiratory infections

Diseases related with Cleft palate and Recurrent respiratory infections

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


Top matches:

Low match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

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

Low match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

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Other less relevant matches:

Low match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Low match DIAMOND-BLACKFAN ANEMIA 7; DBA7


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Low match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE


Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Top 5 symptoms//phenotypes associated to Cleft palate and Recurrent respiratory infections

Symptoms // Phenotype % cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Recurrent respiratory infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Failure to thrive Ventricular septal defect Bilateral single transverse palmar creases Patent ductus arteriosus Recurrent infections Camptodactyly of finger Hypertelorism Dystrophic fingernails Sparse eyelashes Growth delay Micrognathia Hyperlordosis

Rare Symptoms - Less than 30% cases


Muscular hypotonia Dystrophic toenail Cutaneous finger syndactyly Abnormality of the ureter EEG abnormality Toe syndactyly Abnormality of the dentition Protruding ear Bilateral cleft lip and palate Anodontia Sparse lateral eyebrow Feeding difficulties Abnormality of the ear Pili torti Cutaneous syndactyly of toes Abnormality of the philtrum Progressive hypotrichosis Recurrent pneumonia Sparse hair Polyhydramnios Tetralogy of Fallot Osteopenia Abnormality of dental morphology Downslanted palpebral fissures Nail dysplasia Cleft upper lip Oral cleft Malar flattening Highly arched eyebrow Hypodontia Syndactyly Midface retrusion Synophrys Ectodermal dysplasia Wide intermamillary distance Palmoplantar hyperkeratosis Microdontia Neurological speech impairment Carious teeth Sparse and thin eyebrow Hypogonadism Abnormality of dental enamel Macrotia Joint hyperflexibility Scrotal hypoplasia Hypohidrosis Microcephaly Finger syndactyly Posteriorly rotated ears Intrauterine growth retardation Anteverted nares Severe short stature Prominent occiput Generalized hypotonia Ptosis Cerebellar hypoplasia Hypothyroidism Atrial septal defect Respiratory tract infection Secundum atrial septal defect Low-set ears Bulbous nose Small hypothenar eminence Blepharophimosis Sparse scalp hair Vitamin D deficiency Retrognathia Clinodactyly of the 5th finger Cryptorchidism Bifid uvula Abnormal dermatoglyphics Aplasia/Hypoplasia of the frontal sinuses Pectoral muscle hypoplasia/aplasia Hypoplasia of the frontal bone Brittle hair Lipoma of corpus callosum Aplasia/Hypoplasia of the eyebrow Cranium bifidum occultum Uterine neoplasm Triangular face Caudal appendage Abnormal nasolacrimal system morphology Intellectual disability, mild Neoplasm of the tongue Hypoplasia of the corpus callosum Thyroid dysgenesis Thyroid agenesis Brachydactyly Ectopic thyroid Thyroid hypoplasia Abnormality of the antihelix Prominent nose Epicanthus Submucous cleft hard palate Atrioventricular canal defect Long nose Short palpebral fissure Sloping forehead Specific learning disability Cataract Prominent glabella Upper eyelid coloboma Increased mean corpuscular volume Atresia of the external auditory canal Neutropenia Vesicoureteral reflux Hypoplasia of the maxilla Recurrent otitis media Choanal atresia Short thumb Horseshoe kidney Triphalangeal thumb Osteoporosis Low-set, posteriorly rotated ears Macrocytic anemia Sprengel anomaly Conductive hearing impairment Recurrent lower respiratory tract infections Brachycephaly Reticulocytopenia Esophagitis Underdeveloped nasal alae Anemia Fetal distress Absent eyebrow Bilateral cleft lip Hypoplasia of the zygomatic bone Wide nasal base Bifid nose Microphthalmia Widow's peak Eyelid coloboma Facial cleft Sparse eyebrow Neoplasm Hypotrichosis Pterygium Finger clinodactyly Scaling skin Anhidrosis Anteverted ears Preauricular skin tag Hearing impairment Agenesis of corpus callosum Cellulitis Nail dystrophy Transposition of the great arteries Abnormal heart morphology Pulmonic stenosis Anal atresia Dyskinesia Intestinal malrotation Renal agenesis Oligohydramnios Cardiomegaly Situs inversus totalis Holoprosencephaly Dextrocardia Ciliary dyskinesia Abnormal lung lobation Inferior vermis hypoplasia Double outlet right ventricle Myelomeningocele Polysplenia Asplenia Duodenal atresia Pulmonary artery atresia Abdominal situs inversus Heterotaxy Biliary atresia Common atrium Single ventricle Pulmonary artery hypoplasia Arrhythmia Ectopic posterior pituitary Dextrotransposition of the great arteries Short stature Macrocephaly Short neck Abnormality of cardiovascular system morphology Upslanted palpebral fissure Abnormality of the ribs Spina bifida occulta Short thorax Vertebral segmentation defect Missing ribs Abnormality of female internal genitalia Abnormal sacrum morphology Posterior rib fusion Ataxia Central hypothyroidism Nystagmus Frontal bossing Micropenis Growth hormone deficiency Apraxia Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Molar tooth sign on MRI Panhypopituitarism Mitral atresia Posteriorly placed anus Abnormality of the kidney Abnormality of the face Dilatation Prominent forehead Deeply set eye Craniosynostosis Skin rash Cough Papule Pruritus Delayed eruption of teeth Recurrent fractures Lymphoma Eczema Skin ulcer Increased endomysial connective tissue Abnormality of the hair Eosinophilia Chronic otitis media Osteomyelitis Skin vesicle Gingivitis Atelectasis Increased IgE level Paronychia Generalized abnormality of skin Alopecia Hyperhidrosis Fever Respiratory arrest Muscle weakness Gastroesophageal reflux Flexion contracture High palate Motor delay Dysphagia Talipes equinovarus Respiratory distress Myopathy Pectus excavatum Encephalopathy Areflexia Hyporeflexia Respiratory failure Neonatal hypotonia Diaphragmatic paralysis Facial palsy Paralysis Muscular dystrophy Generalized muscle weakness Decreased fetal movement Severe muscular hypotonia Poor head control Nasal speech Restrictive ventilatory defect Long fingers Bulbar palsy Difficulty running Increased connective tissue Abnormality of the cheek



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Colitis, related diseases and genetic alterations Wide nasal bridge and Lactic acidosis, related diseases and genetic alterations Delayed speech and language development and Arthrogryposis multiplex congenita, related diseases and genetic alterations Lymphoma and Headache, related diseases and genetic alterations Immunodeficiency and Severe short stature, related diseases and genetic alterations

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