Cleft palate, and Pneumonia

Diseases related with Cleft palate and Pneumonia

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


Top 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 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 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

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Other less relevant matches:

Low match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Low match OSTEOCRANIOSTENOSIS


Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Low match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Low match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Top 5 symptoms//phenotypes associated to Cleft palate and Pneumonia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism High palate Abnormal facial shape Clinodactyly Talipes equinovarus Respiratory insufficiency Muscular hypotonia Flexion contracture Kyphosis Failure to thrive Posteriorly rotated ears Epicanthus Low-set, posteriorly rotated ears Sensorineural hearing impairment Low-set ears Recurrent respiratory infections Wide nasal bridge Micromelia Joint stiffness Microcephaly Short nose Intellectual disability Single transverse palmar crease Short stature Hearing impairment Micrognathia Depressed nasal bridge Limb undergrowth Midface retrusion Micropenis Abnormality of cardiovascular system morphology Decreased fetal movement Motor delay Camptodactyly of finger Myopathy Recurrent pneumonia Dysphagia Respiratory distress Muscle weakness Scoliosis Respiratory tract infection

Rare Symptoms - Less than 30% cases


Hypertension Gastroesophageal reflux Volvulus Neonatal hypotonia Intrauterine growth retardation Pain Severe short stature Skeletal dysplasia Difficulty running Intestinal malrotation Increased connective tissue Recurrent urinary tract infections Ambiguous genitalia Respiratory failure Pulmonary hypoplasia Abdominal distention Pectus carinatum Bowing of the long bones Thin upper lip vermilion Hydronephrosis Areflexia Macrocephaly Interphalangeal joint contracture of finger Feeding difficulties in infancy Arthralgia Feeding difficulties Osteoarthritis Abnormality of the metaphysis Abnormal form of the vertebral bodies Short phalanx of finger Short finger Short long bone Flared metaphysis Short neck Broad thumb Tapered finger Pectus excavatum Dolichocephaly Coarse facial features Tented upper lip vermilion External ophthalmoplegia Facial palsy Obesity Prominent forehead Seizures Abnormal heart morphology Disproportionate short-limb short stature Lethal skeletal dysplasia Patent ductus arteriosus Cleft lip Widow's peak Conductive hearing impairment Agenesis of corpus callosum Microphthalmia Skeletal muscle atrophy Ophthalmoplegia Brachydactyly Ptosis Prominent nasal bridge Long fingers Arthrogryposis multiplex congenita Joint laxity Muscular dystrophy Kyphoscoliosis Polyhydramnios Downslanted palpebral fissures Hernia Generalized muscle weakness Hypospadias Ventricular septal defect Myopathic facies Arachnodactyly Increased variability in muscle fiber diameter Vesicoureteral reflux Mask-like facies Round face Overgrowth Hyperparathyroidism Horseshoe kidney Aganglionic megacolon Congenital muscular dystrophy Intestinal obstruction Disproportionate tall stature Pancreatitis Hydroureter Bilateral cryptorchidism Hypoalbuminemia Narrow chest Portal hypertension Anonychia Malnutrition Cystic hygroma Bell-shaped thorax Centrally nucleated skeletal muscle fibers Sternocleidomastoid amyotrophy 3-Methylglutaconic aciduria Increased nuchal translucency Muscle fiber necrosis Generalized limb muscle atrophy Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Functional respiratory abnormality Exercise-induced myalgia Tibialis atrophy Minicore myopathy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Akinesia Type 1 muscle fiber atrophy Axial muscle weakness Type 1 muscle fiber predominance Broad forehead Shoulder girdle muscle weakness Distal arthrogryposis Severe postnatal growth retardation Facial diplegia Pterygium Abnormality of the liver Fetal akinesia sequence Nemaline bodies Umbilical hernia Peripheral neuropathy Weight loss Abdominal pain Constipation Dilatation Diarrhea Vomiting Fever Frog-leg posture Increased bone mineral density Episodic abdominal pain Atrial septal defect Asthma Sepsis Neutropenia Pulmonic stenosis Hepatosplenomegaly Thrombocytopenia Recurrent infections Splenomegaly Hepatomegaly Pulmonary arterial hypertension Anemia Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Renal agenesis Sparse scalp hair Spinal deformities Premature loss of teeth Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Hypoplasia of the thymus Prominent superficial veins Varicose veins Abnormality of lipid metabolism Mitral regurgitation Iron deficiency anemia Unilateral renal agenesis Failure to thrive in infancy Cutis laxa Leukopenia Plagiocephaly Recurrent bacterial infections Lymphopenia Bronchiectasis Ulnar deviation of the wrist Neonatal short-limb short stature Chronic constipation Urethral obstruction Full cheeks Talipes Joint hyperflexibility Abnormality of the foot Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Megacystis Cerebral calcification Prune belly Microcolon Pollakisuria Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Achalasia Hip dysplasia Abnormality of the ribs Flattened epiphysis Hip contracture Visceral angiomatosis Ulnar deviation of the hand Irregular epiphyses Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Spinal cord compression Abnormality of the clavicle Overweight Ulnar deviation of finger Blue sclerae Proximal placement of thumb Overfolded helix Elbow dislocation Hyperextensible skin Abnormality of the metacarpal bones Abnormality of the outer ear Joint dislocation Hoarse voice Abnormality of epiphysis morphology Scrotal hypoplasia Aplasia/Hypoplasia of the capital femoral epiphysis Narrow face Double outlet right ventricle Chylothorax Abnormality of the pharynx Pulmonary artery atresia Hydrocele testis Bilateral cleft lip and palate Aspiration pneumonia Bilateral cleft lip Prominent metopic ridge Abnormality of the nasopharynx Increased number of teeth Abnormality of the voice Aspiration Large fontanelles Congenital diaphragmatic hernia Hypodontia Oral cleft Right aortic arch Intestinal lymphangiectasia Smooth philtrum Small nail Broad palm Radial deviation of finger Deep philtrum Recurrent upper respiratory tract infections Intellectual disability, progressive Multicystic kidney dysplasia Congenital hip dislocation Wide intermamillary distance Bladder exstrophy Wide nose Wide mouth Inguinal hernia Intellectual disability, severe Posterior pharyngeal cleft Osteoma Exstrophy Recurrent aspiration pneumonia Cleft upper lip Anal atresia Scaphocephaly Diaphragmatic paralysis Hypoplasia of the maxilla Brachycephaly Intellectual disability, mild Hypoplasia of the corpus callosum Cataract Increased endomysial connective tissue Respiratory arrest Bulbar palsy Tetralogy of Fallot Restrictive ventilatory defect Nasal speech Poor head control Severe muscular hypotonia Paralysis Hyporeflexia Encephalopathy Underdeveloped nasal alae Preauricular skin tag Telecanthus Prominent glabella Syndactyly Frontal bossing Aplasia/Hypoplasia of the frontal sinuses Pectoral muscle hypoplasia/aplasia Hypoplasia of the frontal bone Lipoma of corpus callosum Cranium bifidum occultum Caudal appendage Finger clinodactyly Upper eyelid coloboma Wide nasal base Bifid nose Eyelid coloboma Facial cleft Absent eyebrow Sparse eyebrow Sparse eyelashes Hyperactive deep tendon reflexes Thickened nuchal skin fold Bradycardia Ascites Hyperostosis Redundant skin Growth abnormality Hypocalcemia Cardiac arrest Progressive microcephaly Oligohydramnios Recurrent fractures Slender long bone Polymicrogyria Small for gestational age Short philtrum Craniosynostosis Osteopenia Hydrocephalus Large tarsal bones Hypokinesia Thin ribs Prominent interphalangeal joints Overtubulated long bones Hydrops fetalis Cyanosis Aciduria Webbed neck Proximal muscle weakness Edema Hypoplastic spleen Thin clavicles Aniridia Aplasia/hypoplasia of the extremities Ankyloglossia Cloverleaf skull Decreased skull ossification Short hallux Asplenia Radial bowing Severe intrauterine growth retardation Abnormal lacrimal duct morphology Enlarged epiphyses Abnormality of the rib cage Proptosis Short metacarpal Retinal detachment Short palm Bulbous nose Platyspondyly Hyperlordosis Muscular hypotonia of the trunk Delayed skeletal maturation Abnormality of the skin Malar flattening Long philtrum Abnormality of the skeletal system Myopia Strabismus Facial capillary hemangioma U-Shaped upper lip vermilion Otitis media Lumbar hyperlordosis Premature osteoarthritis Glossoptosis Coronal cleft vertebrae Short 5th metacarpal Enlarged joints Beaking of vertebral bodies Vitreoretinopathy Pierre-Robin sequence Meningocele Synostosis of carpal bones Depressed nasal ridge Occipital encephalocele Disproportionate short stature Abnormal joint morphology Mixed hearing impairment Epiphyseal dysplasia Prominent supraorbital ridges Rhizomelia Encephalocele Cor triatriatum



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