High palate, and Facial asymmetry

Diseases related with High palate and Facial asymmetry

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

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:

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

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

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

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

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Protruding ear Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Facial asymmetry. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short neck Scoliosis Micrognathia Ptosis Hypertelorism Cleft palate Cryptorchidism Feeding difficulties Seizures Webbed neck Microcephaly Malar flattening Epicanthus Sensorineural hearing impairment Cleft lip

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Camptodactyly Triangular face Camptodactyly of finger Arthrogryposis multiplex congenita Talipes Flexion contracture Congenital hip dislocation Talipes equinovarus Facial palsy Low-set ears Abnormality of the pinna Abnormal facial shape Strabismus Absent speech Anxiety Broad forehead Delayed myelination Overlapping toe Cognitive impairment Abnormality of the skeletal system Downslanted palpebral fissures Lacrimal duct stenosis Down-sloping shoulders Posteriorly rotated ears Renal hypoplasia/aplasia Ulnar deviation of the hand or of fingers of the hand Conductive hearing impairment Intellectual disability, mild Distal arthrogryposis Abnormality of the foot Ventriculomegaly Narrow mouth Generalized hypotonia Delayed speech and language development Motor delay Wide nasal bridge Macrotia Neurological speech impairment Depressed nasal bridge Abnormality of cardiovascular system morphology Prominent forehead Short chin Mandibular prognathia Neurodevelopmental delay Cerebral visual impairment CNS hypomyelination Overlapping fingers Deep philtrum Precocious puberty Bilateral ptosis Trismus Aplasia/Hypoplasia of the radius Myopathic facies Facial hypotonia Broad-based gait Ulnar deviation of finger Growth delay Intrauterine growth retardation Abnormality of the hip bone Tarsal synostosis Abnormality of the ear Tremor Abnormality of the dentition Behavioral abnormality Dystonia Cafe-au-lait spot Open mouth Mildly elevated creatine phosphokinase Upslanted palpebral fissure Camptodactyly of toe Short nose Long philtrum Decreased hip abduction Abnormality of the rib cage Thoracolumbar scoliosis Round ear Encephalopathy Myoclonus High forehead Epileptic encephalopathy Neonatal hypotonia Elevated serum creatine phosphokinase Telecanthus Apnea Prominent nasolabial fold Dolichocephaly Unsteady gait Ulnar deviation of the wrist Esotropia Calcaneovalgus deformity Vertebral segmentation defect Hypothyroidism Bilateral talipes equinovarus Decreased muscle mass Retinopathy Submucous cleft hard palate Finger syndactyly Prominent nasal bridge Ophthalmoplegia Edema Cutaneous finger syndactyly Abnormality of skin pigmentation Single transverse palmar crease Bifid uvula Hip dislocation Limitation of joint mobility Dandy-Walker malformation Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Joint stiffness Severe short stature Knee flexion contracture Pterygium Hyperlordosis Deeply set eye Joint laxity Congenital contracture Craniosynostosis Abnormality of the cerebral white matter Gliosis Multiple joint contractures Muscle weakness Waddling gait Metatarsus adductus Thick lower lip vermilion Rocker bottom foot Pointed chin Sparse eyebrow Narrow face Adducted thumb Long fingers Esophageal atresia Periorbital fullness Mild intrauterine growth retardation Narrow palpebral fissure Bilateral single transverse palmar creases Syndactyly Pectus excavatum Clinodactyly of the 5th finger Myopathy Abnormality of the vertebral column Hypoplasia of the corpus callosum Delayed puberty Progressive hearing impairment Prominent supraorbital ridges Increased susceptibility to fractures Mixed hearing impairment Generalized osteoporosis Dentinogenesis imperfecta Thoracic platyspondyly Ataxia Pes cavus Hypogonadism Micropenis Abnormality of the eye Abnormality of eye movement Increased bone mineral density Oral cleft Ichthyosis Renal agenesis Decreased testicular size Hypotelorism Gynecomastia Hypogonadotrophic hypogonadism Holoprosencephaly Azoospermia Anosmia Unilateral renal agenesis Bilateral cryptorchidism Wormian bones Recurrent fractures Sparse pubic hair Hypsarrhythmia Wide mouth Poor speech Thick vermilion border Dental crowding Plagiocephaly Incoordination Delayed ability to walk Dysarthria Brachydactyly Babinski sign Small hand Short metacarpal Paraparesis Delayed eruption of teeth Spastic paraparesis Nasal speech Cone-shaped epiphysis Infantile spasms Epileptic spasms Enuresis Oval face Enuresis nocturna Midface retrusion Osteoporosis Osteopenia Pectus carinatum Platyspondyly Anodontia Hyposmia Respiratory insufficiency Abnormal cranial nerve morphology Abnormality of the kidney Anal atresia Cleft upper lip Flat face Postaxial polydactyly Wide intermamillary distance Abnormality of the ribs Low posterior hairline Spina bifida Hemiplegia/hemiparesis Vertebral fusion Sprengel anomaly Ectopic anus Ventricular septal defect Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Nystagmus Visual impairment Polydactyly Cholesteatoma Abnormal renal morphology Hyperreflexia Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Anteverted nares Unilateral facial palsy Hypertonia Delayed skeletal maturation Long face Full cheeks Preauricular skin tag Scapular winging Abnormal dermatoglyphics Atresia of the external auditory canal Preauricular pit Narrow nose Abnormality of the clavicle Abnormality of the antihelix Long neck Absent phalangeal crease


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