High palate, and Conductive hearing impairment

Diseases related with High palate and Conductive hearing impairment

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

Top matches:

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

Other less relevant matches:

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome|ofc1|ofc syndrome|ofc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

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

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES 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

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Top 5 symptoms//phenotypes associated to High palate and Conductive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Conductive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Atresia of the external auditory canal Micrognathia Depressed nasal bridge Facial asymmetry Microcephaly Sensorineural hearing impairment Hypertelorism Abnormality of the skeletal system Motor delay Abnormality of the pinna Global developmental delay Short neck Abnormality of cardiovascular system morphology Anteverted nares Cryptorchidism

Rare Symptoms - Less than 30% cases

Preauricular pit Renal hypoplasia/aplasia Long face Facial palsy Cognitive impairment Anal atresia Cleft upper lip Wide intermamillary distance Talipes equinovarus Ectopic anus Feeding difficulties Umbilical hernia Pectus excavatum Talipes Hip dislocation Microphthalmia Respiratory insufficiency Downslanted palpebral fissures Flexion contracture Growth delay Hyperextensible skin Cutis laxa Dental malocclusion Telecanthus Hypospadias High, narrow palate Wide nasal bridge Abnormal facial shape Rhizomelia Underdeveloped nasal alae Generalized hypotonia Recurrent fractures Brachycephaly Prominent forehead Osteoporosis Midface retrusion Narrow mouth Protruding ear Increased susceptibility to fractures Intellectual disability, mild Delayed eruption of teeth Epicanthus Malar flattening Microcornea Retinal detachment Hip dysplasia Severe short stature Joint hypermobility Bruising susceptibility High myopia Arachnodactyly Joint hyperflexibility Mitral valve prolapse Keratoconus Blue sclerae Abnormality of epiphysis morphology Congenital hip dislocation Corneal dystrophy Hallux valgus Camptodactyly Megalocornea Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Pulmonic stenosis Glaucoma Myalgia Short humerus Frontal hirsutism Ablepharon Abnormality of male external genitalia Platyspondyly Pectus carinatum Osteopenia Deeply set eye Broad forehead Hypotelorism Abnormality of the genitourinary system Proximal placement of thumb Dislocated radial head Scaphocephaly Neonatal hypotonia Hypoplastic scapulae Hypoplastic ilia Delayed ossification of pubic rami Scapulohumeral synostosis Myopia Gait disturbance Edema Abnormality of the dentition Hernia Visual loss Inguinal hernia Decreased corneal thickness Pes planus Keratoglobus Blindness Abnormality of hair pigmentation Proximal muscle weakness Lacrimal duct aplasia Midline nasal groove Malformed lacrimal duct Muscle weakness Ptosis Fever Skeletal muscle atrophy Ventriculomegaly Myopathy Kyphosis Areflexia Hyporeflexia Kyphoscoliosis Blepharophimosis Cleft ala nasi Arthrogryposis multiplex congenita Abnormality of the foot Downturned corners of mouth Generalized muscle weakness Narrow forehead Short palpebral fissure Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Myopathic facies Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Wide pubic symphysis Cryptophthalmos Abnormality of female external genitalia Vertebral segmentation defect Low-set, posteriorly rotated ears Finger syndactyly Toe syndactyly Oral cleft Pulmonary hypoplasia Ambiguous genitalia Hypoplasia of penis Renal hypoplasia Omphalocele Encephalocele Dental crowding Multicystic kidney dysplasia Scrotal hypoplasia Anophthalmia Anal stenosis Urethral atresia External ear malformation Abnormal lung lobation Myelomeningocele Tracheal stenosis Calvarial skull defect Bifid tongue Abnormal hair pattern Bicornuate uterus Vaginal atresia Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Mild hearing impairment Sparse or absent eyelashes Generalized hypertrichosis Thick eyebrow Brittle hair Long eyelashes Hypertonia Delayed skeletal maturation Macrotia Bifid uvula Neurological speech impairment Single transverse palmar crease Full cheeks Preauricular skin tag Scapular winging Abnormal dermatoglyphics Highly arched eyebrow Autistic behavior Hyperreflexia Narrow nose Abnormality of the clavicle Abnormality of the antihelix Down-sloping shoulders Lacrimal duct stenosis Long neck Unilateral facial palsy Cholesteatoma Autism Ventricular septal defect Polydactyly Cleft lip Abnormality of the kidney Flat face Flat occiput Increased carrying angle Webbed neck Gonadal dysgenesis Arthralgia Bilateral conductive hearing impairment Limb undergrowth Tall stature Increased number of teeth Short toe Coxa valga Disproportionate short-limb short stature Hypoplasia of the radius Skeletal muscle hypertrophy Hypoplasia of the ulna Mesomelia Tibial bowing Fibular hypoplasia Dorsal subluxation of ulna Upper limb undergrowth Short tibia Radial bowing Short 4th metacarpal Abnormality of the humerus Limited elbow movement Madelung deformity Abnormality of the carpal bones Multiple exostoses Mesomelic short stature Long fibula Limited wrist movement Shortening of the tibia Abnormal metatarsal morphology Postaxial polydactyly Anemia Broad alveolar ridges Redundant skin Progressive hearing impairment Wormian bones Abnormality of the skin Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Sparse and thin eyebrow Low anterior hairline Generalized hirsutism Increased bone mineral density Dermal atrophy Sparse eyebrow Triangular face Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Skin tags Absent nipple Gingival fibromatosis Skeletal dysplasia Breast aplasia Ectodermal dysplasia Hirsutism Abnormality of the ribs Cervical C2/C3 vertebral fusion Low posterior hairline Spina bifida Hemiplegia/hemiparesis Vertebral fusion Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Abnormal vertebral segmentation and fusion Bulbous nose Decreased cervical spine mobility Limited neck range of motion Thoracic platyspondyly Failure to thrive Dentinogenesis imperfecta Generalized osteoporosis Mixed hearing impairment Mandibular prognathia Rigidity Prominent supraorbital ridges Wide mouth Microtia Dry skin Thin vermilion border Multiple skeletal anomalies


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