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:
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
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
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Other less relevant matches:
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
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
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
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
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
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
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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