High palate, and Narrow mouth

Diseases related with High palate and Narrow mouth

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

Top matches:

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

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

Other less relevant matches:

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

High match CRISPONI SYNDROME

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Top 5 symptoms//phenotypes associated to High palate and Narrow mouth

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Narrow mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Wide nasal bridge Hearing impairment Long philtrum Intellectual disability Short philtrum Short stature Thin upper lip vermilion Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Scoliosis Motor delay Midface retrusion Short columella Severe muscular hypotonia Underdeveloped nasal alae Narrow chest Osteopenia Hirsutism Feeding difficulties Talipes equinovarus Delayed speech and language development Cryptorchidism Respiratory insufficiency Cardiomyopathy Areflexia Neonatal hypotonia Seizures Upper eyelid coloboma Hypoplasia of the maxilla Malar flattening Wide nose Prominent supraorbital ridges Microtia Depressed nasal bridge Brachycephaly Camptodactyly of finger Microcephaly Sensorineural hearing impairment Hypohidrosis Postnatal growth retardation Pulmonary hypoplasia Premature birth Intellectual disability, moderate Low-set, posteriorly rotated ears Oligohydramnios Decreased fetal movement Kyphoscoliosis Microretrognathia Patent foramen ovale Posteriorly rotated ears Congenital contracture Spinal muscular atrophy Peripheral axonal neuropathy Respiratory failure Arthrogryposis multiplex congenita Peripheral neuropathy Vertebral segmentation defect Pierre-Robin sequence Coxa valga Enlarged cisterna magna Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Muscle weakness Skeletal muscle atrophy Abnormal cardiac septum morphology Dysphagia Progressive microcephaly Rhizomelia Smooth philtrum Respiratory distress Congestive heart failure Patent ductus arteriosus Failure to thrive in infancy Neonatal respiratory distress Synophrys Increased variability in muscle fiber diameter Cutaneous syndactyly Cerebellar hypoplasia Gastroesophageal reflux Craniosynostosis Talipes Anal atresia Choanal atresia Wide anterior fontanel Generalized hirsutism Overfolded helix Low-set ears Cupped ear Bilateral talipes equinovarus Long fingers Prominent metopic ridge Short clavicles Broad neck Asplenia Widow's peak Velopharyngeal insufficiency Syndactyly Cleft palate Generalized amyotrophy Poor speech Axonal loss Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Fractures of the long bones Multiple prenatal fractures Strabismus Hyperactivity Prominent nasal bridge Thick eyebrow Curly eyelashes Highly arched eyebrow Single transverse palmar crease Prominent nose Wide intermamillary distance Dental crowding Long eyelashes Low anterior hairline Broad hallux Unilateral cryptorchidism Short neck Cognitive impairment Hypertension Protruding ear Lacrimal duct atresia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Aplasia/Hypoplasia involving the nose Limited wrist movement Abnormality of cardiovascular system morphology Prominent forehead Osteoporosis Pectus carinatum Abnormality of the wrist Platyspondyly Facial asymmetry Delayed eruption of teeth Recurrent fractures Increased bone mineral density Wormian bones Progressive hearing impairment Increased susceptibility to fractures Mixed hearing impairment Ulnar deviation of the hand Ulnar deviation of finger Dentinogenesis imperfecta Ptosis Ataxia Gait ataxia Macrotia Deeply set eye Long face Hypotelorism Thick lower lip vermilion Large hands Short nose Congenital sensorineural hearing impairment Clinodactyly Telecanthus Blepharophimosis Flat face High, narrow palate Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Generalized osteoporosis Thoracic platyspondyly Muscular hypotonia Anteverted nares Eyelid coloboma Abnormal hair pattern Bifid nasal tip Vaginal atresia Broad columella Nasolacrimal duct obstruction Cryptophthalmos Ablepharon Hypertonia Anteriorly placed anus Kyphosis Hyperhidrosis Sudden cardiac death Full cheeks Limitation of joint mobility Malignant hyperthermia Large face Growth delay Failure to thrive Anal stenosis Anophthalmia Myopathy Axial muscle weakness Elevated serum creatine phosphokinase Retrognathia Facial palsy Dilated cardiomyopathy Ophthalmoplegia Bifid uvula Centrally nucleated skeletal muscle fibers Hip contracture Microphthalmia Abnormality of the hair High forehead Coloboma Corneal opacity Broad nasal tip Ectodermal dysplasia Renal agenesis Amenorrhea Primary amenorrhea Omphalocele Median cleft palate


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