Cleft palate, and Lymphedema

Diseases related with Cleft palate and Lymphedema

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


Top matches:

Medium match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Medium match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Medium 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

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Other less relevant matches:

Medium match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Low match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Low match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Low match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Low match LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME


Related symptoms:

  • High palate
  • Pectus excavatum
  • Choanal atresia
  • Lymphedema
  • Pericardial effusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-POSTERIOR CHOANAL ATRESIA SYNDROME

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

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

Symptoms // Phenotype % cases
Ptosis Common - Between 50% and 80% cases
Edema Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Scoliosis Intellectual disability Abnormal heart morphology Short stature Hearing impairment Cryptorchidism Cataract Pulmonic stenosis Micrognathia Low-set ears Epicanthus Hernia Seizures Abnormality of cardiovascular system morphology Brachydactyly Short neck Global developmental delay Wide nasal bridge Arrhythmia Paresthesia Atrial septal defect Fine hair Downslanted palpebral fissures Hydrocephalus Abnormality of the nail Webbed neck Nystagmus Macrocephaly Flexion contracture Polyhydramnios Depressed nasal bridge Growth delay Frontal bossing Microcephaly Hypotrichosis Cleft upper lip Umbilical hernia Short nose Hypermetropia Alopecia Inguinal hernia Clinodactyly Camptodactyly Pectus excavatum Growth hormone deficiency

Rare Symptoms - Less than 30% cases


Pectus carinatum Generalized hypotonia Widow's peak Obesity Abnormality of the skeletal system Hypogonadism Upslanted palpebral fissure Polydactyly Brachycephaly Talipes equinovarus Narrow nasal bridge Ectropion Long philtrum Bruising susceptibility Muscular hypotonia Microphthalmia Cardiomegaly Hyperextensible skin Hypoplasia of the maxilla Low posterior hairline High palate Prominent forehead Joint laxity Pes planus Delayed skeletal maturation Congestive heart failure Microdontia Depressivity Syndactyly Glaucoma Cerebral cortical atrophy Hyperextensibility of the finger joints Cutis laxa Intellectual disability, mild Broad philtrum Abnormality of the genital system Flat face Hepatomegaly Radial deviation of finger Failure to thrive Genu valgum Joint hypermobility Proptosis Hip dislocation Motor delay Optic nerve dysplasia Behavioral abnormality Abnormal cardiac septum morphology Pain Sparse hair Conjunctivitis Broad columella Tetralogy of Fallot Muscle weakness Pulmonary hypoplasia Photophobia Myopia Optic atrophy Blindness Abnormality of the dentition Clinodactyly of the 5th finger High forehead Cubitus valgus Abnormality of the eye Brittle hair Pleural effusion Bilateral ptosis Abnormality of vision Abnormality of the cerebral white matter Accelerated skeletal maturation Abnormality of the fingernails Preaxial polydactyly Abnormal form of the vertebral bodies Abnormality of the metaphysis Narrow chest Palmoplantar keratoderma Dolichocephaly Median cleft lip Midface retrusion Malar flattening Hemangioma Dysarthria Cellulitis Osteopenia Intrauterine growth retardation Joint dislocation Meningocele Fever Telecanthus Abnormal facial shape Talipes Deep palmar crease Conductive hearing impairment Predominantly lower limb lymphedema Underdeveloped nasal alae Slow-growing hair Distichiasis Curly hair Ataxia Varicose veins Congenital diaphragmatic hernia Kyphosis Feeding difficulties in infancy Cardiomyopathy Splenomegaly Irritability Respiratory tract infection Hypertonia Thrombocytopenia Posteriorly rotated ears Intellectual disability, severe Hydronephrosis Gastroesophageal reflux Autism Coarse facial features Hyperkeratosis Hyperhidrosis EEG abnormality Aggressive behavior Encephalopathy Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Macrotia Constipation Abnormality of the kidney Vomiting Cerebral atrophy Cranial hyperostosis Ventriculomegaly Metaphyseal dysplasia Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Basal ganglia calcification High hypermetropia Abnormal cortical bone morphology Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Hand polydactyly Reduced number of teeth Spastic tetraparesis Abnormality of dental enamel Spastic paraparesis Paraparesis Dental crowding Short hallux Abnormality of the nose Dysphagia Hyperintensity of cerebral white matter on MRI Delayed speech and language development Feeding difficulties Neoplasm Posterior choanal atresia Hypoplastic nipples Pericardial effusion Choanal atresia Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Aplasia/Hypoplasia of the middle phalanges of the hand Neurogenic bladder Joint contracture of the 5th finger Scarring Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Erythema Decreased body weight Leukemia Hypoplasia of the zygomatic bone Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Absent eyelashes Abnormal mitral valve morphology Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Gastrointestinal dysmotility Thickened helices Infantile spasms Generalized ichthyosis Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Hypoplasia of the frontal lobes Subvalvular aortic stenosis Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormality of the sternum Neurofibromas Neurological speech impairment Abdominal distention Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Coarctation of aorta Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Dental malocclusion Premature birth Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Sleep disturbance Short palpebral fissure High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Falls Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Astigmatism Nail dystrophy Pruritus Open mouth Thickened skin Neurodevelopmental delay Deep philtrum Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Melanocytic nevus Scaling skin Sparse eyebrow Failure to thrive in infancy Redundant skin Poor suck Cafe-au-lait spot Relative macrocephaly Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Cerebral visual impairment Hyperpigmentation of the skin Hypoplasia of dental enamel Meningitis Tetraparesis Hypertension Round face Hypodontia Single transverse palmar crease Short foot Short palm Polymicrogyria Cirrhosis Delayed puberty Attention deficit hyperactivity disorder Abdominal pain Hyperactivity Anemia Increased intracranial pressure Lipedema Spinalarachnoid cyst Abnormality of the pulmonary vasculature Fibrosarcoma Knee pain Renal duplication Venous insufficiency Corneal erosion Tubulointerstitial nephritis Overweight Glomerulopathy Recurrent skin infections Generalized-onset seizure Mild short stature Telangiectasia Curved linear dimple below the lower lip Wide nose Oral cleft Coloboma Craniosynostosis Intellectual disability, moderate Cleft lip Hypothyroidism Micropenis Agenesis of corpus callosum Dilatation Cervical spine hypermobility Increased upper to lower segment ratio Interstitial pulmonary abnormality Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Volvulus Large earlobe Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Shawl scrotum Macrocytic anemia Broad palm Gynecomastia Recurrent urinary tract infections Postural instability Hypoplastic ilia Increased fibular diameter Advanced tarsal ossification Unossified vertebral bodies Dumbbell-shaped long bone Severe hydrops fetalis Advanced ossification of carpal bones Anterior rib cupping Hypoplastic vertebral bodies Vertebral hypoplasia Lateral clavicle hook Diaphyseal thickening Ovoid vertebral bodies Ascites Flat acetabular roof Hypoplastic scapulae Fibular hypoplasia Hypoplastic toenails Metaphyseal irregularity Disproportionate short-limb short stature Spontaneous abortion Short ribs Micromelia Platyspondyly Skeletal dysplasia Severe short stature Snail-like ilia Nail dysplasia Abnormality of the liver Vertebral fusion Proteinuria Anxiety Diabetes mellitus Patent ductus arteriosus Abnormal cervical curvature Amyoplasia Hypoplastic heart Multiple pterygia Fetal akinesia sequence Malignant hyperthermia Thin ribs Cystic hygroma Short finger Hydrops fetalis Akinesia Pterygium Increased susceptibility to fractures Depressed nasal ridge Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Chylous ascites Abnormality of the amniotic fluid Hypoproteinemia Nonimmune hydrops fetalis Hydrocele testis Edema of the lower limbs Postaxial polydactyly Broad nasal tip Hypotelorism Upper limb undergrowth Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Aortic root aneurysm Hypertropia Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Patent foramen ovale Bicuspid aortic valve Sandal gap Microretrognathia Elbow flexion contracture Shoulder dislocation Accessory carpal bones Amblyopia Deeply set eye Cerebral calcification Overgrowth Microcornea Paraplegia Toe syndactyly Carious teeth Spastic paraplegia Finger syndactyly Camptodactyly of finger Blepharophimosis Abnormality of the pinna Abnormality of the nervous system Hypoglycemia Enlarged metaphyses Mandibular prognathia Visual loss Gait disturbance Hyperreflexia Visual impairment Cognitive impairment Spasticity Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Rhizomelia Left ventricular hypertrophy Dandy-Walker malformation Adrenal insufficiency Bifid nasal tip Conical tooth Preaxial foot polydactyly Calvarial skull defect Short columella Coronal craniosynostosis Lipoma Facial cleft Occipital encephalocele Partial agenesis of the corpus callosum Multiple lipomas Diabetes insipidus Agenesis of cerebellar vermis Anophthalmia Easy fatigability Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Long eyelashes Abnormality of the face Heterotopia Encephalocele Oligohydramnios Postaxial hand polydactyly Decreased testicular size Alopecia totalis Bifid nose Abnormal lung morphology Osteoporosis Mitral regurgitation Blue sclerae Mitral valve prolapse Esotropia Short metacarpal Recurrent fractures Thick eyebrow Arachnodactyly Abnormality of the foot Microtia Kyphoscoliosis Narrow mouth Respiratory distress Parietal foramina Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Oral aversion



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