Cleft palate, and Scarring

Diseases related with Cleft palate and Scarring

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


Top matches:

Low match CATARACT 46, JUVENILE-ONSET; CTRCT46


CATARACT 46, JUVENILE-ONSET; CTRCT46 Is also known as cataract, juvenile, hutterite type

Related symptoms:

  • Cleft palate
  • Cataract
  • Scarring
  • Congenital cataract
  • Aniridia


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 46, JUVENILE-ONSET; CTRCT46

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Low match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Blue sclerae Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Bruising susceptibility Myopia Intellectual disability Cutis laxa Joint hypermobility Pes planus Microcornea Pectus excavatum Arachnodactyly Camptodactyly Hypertelorism Hyperextensible skin Generalized hypotonia High palate Flexion contracture Cryptorchidism Narrow mouth Kyphoscoliosis Atrophic scars Joint dislocation Global developmental delay Short stature Patent ductus arteriosus Downslanted palpebral fissures Joint laxity Skeletal dysplasia Wide nasal bridge Pulmonic stenosis Microretrognathia Dermal translucency Motor delay Posteriorly rotated ears Depressed nasal bridge Mitral valve prolapse Osteopenia Soft skin Broad forehead Conductive hearing impairment Muscular hypotonia Umbilical hernia Sensorineural hearing impairment Bifid uvula Inguinal hernia Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Sparse hair Micrognathia Cleft upper lip Nevus Bicuspid aortic valve Bilateral cryptorchidism Glaucoma Coxa valga Cleft lip Thin skin Finger clinodactyly Hyperkeratosis Low anterior hairline Cataract Sparse eyelashes Hydrocephalus Micropenis Facial asymmetry Hypospadias Microtia Abnormality of the skeletal system Failure to thrive Atrial septal defect Retrognathia Flat forehead Skeletal muscle atrophy Fine hair Arnold-Chiari malformation Hypoplasia of the maxilla Exotropia Long toe Abnormality of the sternum Bowing of the long bones Disproportionate tall stature Epicanthus High myopia Proptosis Large joint dislocations Hallux valgus Increased susceptibility to fractures Congenital hip dislocation Thick eyebrow Abnormal facial shape Short philtrum Pectus carinatum Low-set ears Gait disturbance Retinal detachment Short neck Joint hyperflexibility Intellectual disability, mild Osteoporosis Telecanthus Alopecia Abnormality of the nervous system Muscle weakness Hypermetropia Advanced ossification of carpal bones Cutaneous photosensitivity Congenital diaphragmatic hernia Ulnar bowing Pierre-Robin sequence Abnormality of skin pigmentation Forearm undergrowth Fused cervical vertebrae Talipes equinovalgus Absent earlobe Flat face Triangular face Macrocephaly Prominent scalp veins Sparse scalp hair Soft, doughy skin Slender toe Testicular torsion Phalangeal dislocation Single transverse palmar crease Facial wrinkling Hip contracture Abnormality of primary teeth Subglottic stenosis Midface retrusion Tracheal stenosis Poor wound healing Sparse eyebrow Elbow flexion contracture Sclerotic vertebral endplates Elbow dislocation Lipodystrophy Bowing of the legs Curly hair Proportionate short stature Short clavicles Genu recurvatum Gingivitis Radioulnar synostosis Atypical scarring of skin Accelerated skeletal maturation Periodontitis Ulcerative colitis Prominent forehead Neurogenic bladder Severe short stature Aortic valve stenosis Ulnar deviation of the hand Progeroid facial appearance Varicose veins Generalized osteoporosis Sparse and thin eyebrow Growth delay Abnormality of cardiovascular system morphology Narrow chest Small face Mild global developmental delay Rhinitis Palmoplantar cutis gyrata Intestinal malrotation Adducted thumb Narrow palate Horseshoe kidney Nephrolithiasis Large fontanelles Recurrent urinary tract infections Coarctation of aorta Nephrotic syndrome Tapered finger Pterygium High, narrow palate Talipes Arthrogryposis multiplex congenita Blepharophimosis Protruding ear Hydronephrosis Thin upper lip vermilion Respiratory failure Recurrent skin infections Congenital contracture Constipation Diastasis recti Hyperalgesia Decreased palmar creases Talipes valgus Endocarditis Abnormal anterior chamber morphology Pneumothorax Ecchymosis Generalized joint laxity Low hanging columella Cerebral hemorrhage Hiatus hernia Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Fragile skin Prolonged bleeding time Delayed cranial suture closure Bilateral talipes equinovarus Abnormality of the coagulation cascade Brachycephaly Long philtrum Ptosis Postaxial hand polydactyly Aortic root aneurysm Myopathic facies Aortic aneurysm Ectopia lentis Joint contracture of the hand Mitral regurgitation Osteoarthritis Eczema Asthma Dilatation of the cerebral artery Thin vermilion border Dolichocephaly Craniosynostosis Clinodactyly of the 5th finger Clinodactyly Dilatation Malar flattening Frontal bossing Decreased muscle mass Scaphocephaly Short nose Cystic medial necrosis Ventriculomegaly Strabismus Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Ascending aortic dissection Narrow nose Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Sagittal craniosynostosis Spondylolisthesis High anterior hairline Dislocated radial head Skin erosion Hyperostosis Poor suck High-frequency sensorineural hearing impairment Keloids Bladder diverticulum Cleft soft palate Follicular hyperkeratosis Difficulty climbing stairs Congenital muscular dystrophy Easy fatigability Abnormal eye morphology Poor head control Severe muscular hypotonia Hypotelorism Sloping forehead Waddling gait Abnormality of the foot Muscular dystrophy Elevated serum creatine phosphokinase Arterial rupture Aortic rupture Cardiomyopathy Retinopathy Posterior embryotoxon Short middle phalanx of finger Anophthalmia Optic nerve hypoplasia Pigmentary retinopathy Retinal dystrophy Astigmatism Coloboma Seizures Photophobia Hypothyroidism Agenesis of corpus callosum Microphthalmia Intellectual disability, severe Respiratory distress Respiratory insufficiency Nystagmus Myopathy Abnormality of hair pigmentation Hypoplasia of the fovea Hemangioma Abnormality of the cheek Unilateral cleft lip Aplasia cutis congenita Skin vesicle Cupped ear Intracranial hemorrhage Dermal atrophy Short chin Abnormal mast cell morphology Hemiparesis Abnormal blistering of the skin Focal-onset seizure Carious teeth Microcephaly Juvenile cataract Aniridia Congenital cataract Fragmented elastic fibers in the dermis Abnormality of buccal mucosa Decreased corneal thickness Keratoconus Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Sclerocornea Megalocornea Corneal dystrophy Abnormality of epidermal morphology Abnormality of epiphysis morphology Hip dysplasia Recurrent fractures Hip dislocation Myalgia Neonatal hypotonia Visual loss Edema Microglossia Retinal dysplasia Stridor Selective tooth agenesis Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon Orthokeratosis Plantar hyperkeratosis Conical tooth 3-4 toe syndactyly Pili torti Heat intolerance Trismus Chronic sinusitis Absent eyelashes Blepharitis Pustule Ectrodactyly Bilateral choanal atresia Fibrous syngnathia Sparse body hair Webbed neck Patent foramen ovale Pyloric stenosis Prominent supraorbital ridges Short metatarsal Deep philtrum Abnormality of the genitourinary system Pointed chin Short metacarpal Vaginal dryness Full cheeks Broad nasal tip Hirsutism Delayed puberty Abnormality of the pinna Feeding difficulties in infancy Gastroesophageal reflux Otitis externa Keratoconjunctivitis sicca Agenesis of permanent teeth Central hypothyroidism Syndactyly Sepsis Hypodontia Palmoplantar keratoderma Oral cleft Toe syndactyly Hypotrichosis Nail dystrophy Ventricular septal defect Otitis media Feeding difficulties Pain Myopic astigmatism Aglossia Proboscis Macular scar Mandibular aplasia Ectopic posterior pituitary Ectodermal dysplasia Microdontia Supernumerary nipple Conjunctivitis Anonychia Anhidrosis 2-3 toe syndactyly Hammertoe Erythroderma Brittle hair Atresia of the external auditory canal Widely spaced teeth Increased body weight Small nail Hoarse voice Sinusitis Hyperpigmentation of the skin Hypohidrosis Choanal atresia Recurrent otitis media Split hand Inflammatory abnormality of the skin Abnormality of the duodenum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Craniosynostosis, related diseases and genetic alterations Dysarthria and Hyperglycemia, related diseases and genetic alterations Intellectual disability, severe and Arrhythmia, related diseases and genetic alterations Skeletal muscle atrophy and Autoimmunity, related diseases and genetic alterations Hypertelorism and Pectus excavatum, related diseases and genetic alterations Sensorineural hearing impairment and Abnormal blistering of the skin, related diseases and genetic alterations

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