Cleft palate, and Congenital diaphragmatic hernia

Diseases related with Cleft palate and Congenital diaphragmatic hernia

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


Top matches:

Medium match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Medium match SERKAL SYNDROME


SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

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Other less relevant matches:

Medium match DIAMOND-BLACKFAN ANEMIA 10; DBA10


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:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Low match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Low match LETHAL MULTIPLE PTERYGIUM SYNDROME


Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Low match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS


Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Top 5 symptoms//phenotypes associated to Cleft palate and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Respiratory insufficiency Posteriorly rotated ears Abnormal facial shape Intellectual disability Epicanthus Abnormality of cardiovascular system morphology Hearing impairment Intrauterine growth retardation Global developmental delay Edema Oral cleft Cleft lip Hydrocephalus Growth delay

Rare Symptoms - Less than 30% cases


Abnormality of the kidney Agenesis of corpus callosum Anemia Patent ductus arteriosus Feeding difficulties Telecanthus Downslanted palpebral fissures Respiratory distress Malar flattening Midface retrusion Anencephaly Broad neck Double outlet right ventricle Polyhydramnios Cryptorchidism Micropenis Generalized hypotonia Mandibulofacial dysostosis Macrocytic anemia Ambiguous genitalia Microtia Short stature Sensorineural hearing impairment Retrognathia Abnormal lung lobation Smooth philtrum Abnormal heart morphology Anteverted nares Hypospadias Abnormality of the skeletal system Depressed nasal bridge Oligohydramnios Fever Brachycephaly Aniridia Microcephaly Flexion contracture Wide nasal bridge Short neck Amyoplasia Hypoplastic heart Multiple pterygia Abnormal cervical curvature Fetal akinesia sequence Thrombocytopenia Skeletal dysplasia Malignant hyperthermia Meningocele Cerebellar vermis hypoplasia Thin ribs Aplastic clavicle Hydrops fetalis Short ribs Preaxial polydactyly Postaxial polydactyly Polymicrogyria Thoracic hypoplasia Molar tooth sign on MRI Upper limb undergrowth Thoracic dysplasia Retinal coloboma Short upper lip Cystic hygroma Depressed nasal ridge Micromelia Narrow chest Lymphedema Joint dislocation Increased susceptibility to fractures Pterygium Akinesia Short finger Vertebral fusion Hydronephrosis High palate Prominent nasal bridge Widow's peak Large fontanelles Aspiration Abnormality of the voice Increased number of teeth Prominent metopic ridge Bilateral cleft lip Aspiration pneumonia Bilateral cleft lip and palate Hydrocele testis Pulmonary artery atresia Intestinal malrotation Volvulus Abnormality of the pharynx Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Osteoma Recurrent urinary tract infections Hypodontia Underdeveloped nasal alae Large fleshy ears Convex nasal ridge Sloping forehead Hepatic fibrosis Microretrognathia Short long bone Polycystic kidney dysplasia Multiple joint contractures Flared metaphysis Long palpebral fissure Ulnar deviation of the hand Periportal fibrosis Cleft upper lip Frontal bossing Dysphagia Syndactyly Pectus excavatum Pneumonia Prominent forehead Gastroesophageal reflux Thin upper lip vermilion Pectus carinatum Anal atresia Coloboma Glomerulosclerosis Abnormality of the pinna Choanal atresia Sparse and thin eyebrow Sparse eyebrow Mixed hearing impairment Submucous cleft hard palate Severe sensorineural hearing impairment Granulocytopenia Failure to thrive Jaundice Conductive hearing impairment Atresia of the external auditory canal Bifid uvula Ectopic kidney Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Spasticity Delayed speech and language development Dystonia Microphthalmia Muscular hypotonia of the trunk Webbed neck Adrenal gland agenesis Severe global developmental delay Abnormality of the diaphragm Talipes equinovarus Postaxial hand polydactyly Omphalocele Spina bifida Holoprosencephaly Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Primary adrenal insufficiency Calvarial skull defect Neural tube defect Malrotation of small bowel Pulmonic stenosis Renal agenesis Pulmonary artery stenosis Sex reversal Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Bilateral lung agenesis Sparse hair Wide nose Polydactyly Diffuse mesangial sclerosis Glomerulonephritis Nephroblastoma Focal segmental glomerulosclerosis Glomerulopathy Gonadal dysgenesis Male pseudohermaphroditism Gonadoblastoma Abnormal renal physiology Ambiguous genitalia, male Ambiguous genitalia, female Primary amenorrhea Uterus didelphys Low-grade fever Streak ovary Anuria True hermaphroditism Ovarian gonadoblastoma Gonadal tissue inappropriate for external genitalia or chromosomal sex Atrial septal defect Hyporeflexia Abnormality of the genital system Nephrotic syndrome Broad nasal tip Neoplasm Chorea Tetraparesis Short palpebral fissure Short chin Spastic tetraparesis Anophthalmia Bicornuate uterus Hypoplastic left atrium Nystagmus Hypertension Amenorrhea Renal insufficiency Recurrent infections Weight loss Proteinuria Pallor Lethargy Stage 5 chronic kidney disease Nephropathy Abdominal distention Posterior pharyngeal cleft



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Single transverse palmar crease, related diseases and genetic alterations Melanoma and Abnormality of the ribs, related diseases and genetic alterations Intellectual disability, severe and Retinal detachment, related diseases and genetic alterations Tremor and Anorexia, related diseases and genetic alterations

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