Cleft palate, and Triangular face

Diseases related with Cleft palate and Triangular face

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


Top matches:

Medium match MEIER-GORLIN SYNDROME 5; MGORS5


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Medium match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Medium match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

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Other less relevant matches:

Medium match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Medium match 6Q25 MICRODELETION SYNDROME


6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Medium match VAN DEN ENDE-GUPTA SYNDROME


Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Top 5 symptoms//phenotypes associated to Cleft palate and Triangular face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Wide nasal bridge Protruding ear Failure to thrive Scoliosis High palate Epicanthus Low-set ears Malar flattening Short neck Talipes equinovarus Intellectual disability, mild Pectus excavatum Microcephaly Seizures Hypoplasia of the maxilla Strabismus Alopecia Hyperlordosis Abnormality of the skeletal system Neonatal hypotonia Cryptorchidism Clinodactyly of the 5th finger Abnormal heart morphology Wide mouth Abnormality of cardiovascular system morphology Syndactyly Downslanted palpebral fissures Webbed neck Camptodactyly Muscular hypotonia Generalized hypotonia High, narrow palate Sensorineural hearing impairment Flexion contracture Ptosis Bilateral single transverse palmar creases Growth delay Microdontia Clinodactyly Mandibular prognathia

Rare Symptoms - Less than 30% cases


Finger syndactyly Broad forehead Gastroesophageal reflux Abnormality of the dentition Toe syndactyly Abnormality of the rib cage Deeply set eye Scapular winging Arachnodactyly Cardiac arrest Retinopathy Joint contracture of the hand Camptodactyly of finger Arthrogryposis multiplex congenita Ophthalmoplegia Joint laxity Wide intermamillary distance Ventricular extrasystoles Kyphoscoliosis Congestive heart failure Intrauterine growth retardation Long philtrum Feeding difficulties Macrotia Blepharophimosis EEG abnormality Cutaneous finger syndactyly Abnormality of the kidney Hypertension Facial asymmetry Narrow mouth Micropenis Abnormality of the foot Bifid uvula Thin upper lip vermilion Anteverted nares Thin vermilion border Knee flexion contracture Abnormality of the pinna Pterygium Conductive hearing impairment Congenital contracture Hypospadias Microtia Bilateral talipes equinovarus Abnormality of skin pigmentation Patent foramen ovale Slender long bone Decreased muscle mass Cognitive impairment Hypermetropia Smooth philtrum Distal arthrogryposis Camptodactyly of toe Dental crowding Bulbous nose Depressivity Ectodermal dysplasia Dental malocclusion Small hand Syncope Abnormality of dental morphology Delayed speech and language development Aplasia/Hypoplasia of the eyebrow Dandy-Walker malformation Frontal bossing Lumbar hyperlordosis Redundant skin Interphalangeal joint contracture of finger Respiratory distress Short phalanx of finger Arrhythmia Sparse and thin eyebrow Abnormality of the genital system Depressed nasal ridge Low-set, posteriorly rotated ears Underdeveloped nasal alae Dolichocephaly Restrictive ventilatory defect Long fingers Abnormal renal morphology Vertebral segmentation defect Poor eye contact Abnormality of the hip bone Tarsal synostosis Abnormality of the sternum Macular dystrophy Abnormality of nervous system morphology Mask-like facies Ventriculomegaly Abnormality of the eye Pes planus Upslanted palpebral fissure Agenesis of corpus callosum Patent ductus arteriosus Short nose Atrial septal defect Hydrocephalus Ventricular septal defect Mitral valve prolapse Receptive language delay Central sleep apnea Expressive language delay Prominent nasal tip Echolalia Abnormality of chromosome segregation Speech apraxia Poor fine motor coordination Abnormality of the pharynx Full cheeks Short palpebral fissure Bilateral ptosis Bipolar affective disorder Abnormal electroretinogram Adducted thumb Narrow face Abnormality of retinal pigmentation Abnormal lung morphology Astigmatism Abnormality of eye movement Joint stiffness Areflexia Hypocholesterolemia Plagiocephaly Secundum atrial septal defect Shallow orbits Anteriorly placed anus External genital hypoplasia Thoracic hypoplasia Mild short stature Tricuspid regurgitation Rocker bottom foot Abnormality of vision Keratoconus Limited wrist extension Ulnar deviation of finger Hyperkeratosis Cafe-au-lait spot Mitral regurgitation Myocardial infarction Overgrowth Chest pain Delayed puberty Pulmonic stenosis Pectus carinatum Hypertrophic cardiomyopathy Posteriorly rotated ears Spina bifida occulta Dilatation Kyphosis Cardiomyopathy Respiratory insufficiency Fatigue Pain Neoplasm Slender metacarpals Long metacarpals Aortic valve stenosis Mutism Distal ulnar hypoplasia Abnormal aortic valve morphology Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal mitral valve morphology Cubitus valgus Hyposmia Angina pectoris Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Bilateral cryptorchidism Unilateral renal agenesis Glenoid fossa hypoplasia Narrow foot Aplasia/Hypoplasia of the radius Congenital finger flexion contractures Intellectual disability, severe Depressed nasal bridge Internally rotated shoulders Exophoria Firm muscles Decreased facial expression Amyoplasia Dysphasia Absent phalangeal crease Round ear Craniosynostosis Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Tapetoretinal degeneration Overlapping fingers Hypoventilation Hydronephrosis Everted lower lip vermilion Ulnar bowing Dislocated radial head Long hallux Lateral clavicle hook Eclabion Hypoplastic scapulae Choanal stenosis Single umbilical artery Sclerocornea Abnormal eyebrow morphology Narrow nose Thin ribs Asthma Narrow nasal bridge Femoral bowing Hallux valgus Stridor Laryngomalacia Elbow flexion contracture Bowing of the long bones Ambiguous genitalia Convex nasal ridge High hypermetropia Right bundle branch block Open bite Recurrent respiratory infections Carious teeth Nail dystrophy Neurological speech impairment Sparse hair Cleft lip Hypogonadism Hyperhidrosis Midface retrusion Cleft upper lip Abnormality of male external genitalia Ablepharon Frontal hirsutism Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Broad alveolar ridges Synophrys Oral cleft Sparse or absent eyelashes Brittle hair Dystrophic toenail Anodontia Bilateral cleft lip and palate Hypoplasia of the zygomatic bone Bilateral cleft lip Abnormality of the ureter Abnormality of the ear Palmoplantar hyperkeratosis Highly arched eyebrow Scrotal hypoplasia Abnormal dermatoglyphics Sparse eyelashes Abnormality of dental enamel Hypohidrosis Sparse scalp hair Nail dysplasia Hypodontia Breast aplasia Gingival fibromatosis Dystrophic fingernails Hypoplasia of the capital femoral epiphysis Dry skin Telecanthus Rigidity Irregular femoral epiphysis Birth length less than 3rd percentile Toe clinodactyly Small earlobe Irregular epiphyses Delayed eruption of teeth Patellar aplasia Mild global developmental delay Prominent metopic ridge Elbow dislocation Thick vermilion border Delayed skeletal maturation Motor delay Hirsutism Abnormality of the skin Absent nipple Cupped ear Skin tags Taurodontia Inverted nipples Shawl scrotum Hypoplastic nipples Aplasia/Hypoplasia of the skin Long nose Ectropion Hypertrichosis Sparse eyebrow Atresia of the external auditory canal Dermal atrophy Hyperextensible skin Cutis laxa Generalized hirsutism Low anterior hairline Abnormality of the face Sparse lateral eyebrow Pili torti Oral-pharyngeal dysphagia Periodic hypokalemic paresis Dysarthria Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Short mandibular rami Dysphagia Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Myopia Hypoplasia of the corpus callosum T-wave inversion Abnormality of the cardiovascular system Language impairment Trigonocephaly Failure to thrive in infancy Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Stereotypy Delayed myelination Hyperactivity Small for gestational age Attention deficit hyperactivity disorder Autistic behavior Feeding difficulties in infancy Apnea Anxiety Hypothyroidism Autism Torsade de pointes Left bundle branch block Cutaneous syndactyly of toes Submucous cleft hard palate Retrognathia Elevated serum creatine phosphokinase Brachydactyly Ulnar deviation of the hand or of fingers of the hand Decreased hip abduction Down-sloping shoulders Thoracolumbar scoliosis Overlapping toe Limb muscle weakness Congenital hip dislocation Abnormal vertebral morphology Limitation of joint mobility Single transverse palmar crease Talipes Progressive hypotrichosis Abnormality of the philtrum Dilated cardiomyopathy Short palm Short finger Reduced tendon reflexes Prolonged QT interval 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Oligodontia Abnormal palate morphology Wide nose Ventricular tachycardia Hypoplasia of dental enamel Palpitations Specific learning disability Febrile seizures Short metacarpal Sudden cardiac death Broad nasal tip Aplasia of the ovary



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