High palate, and Triangular face

Diseases related with High palate and Triangular face

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

Top matches:

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Other less relevant matches:

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS 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

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

High 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 Triangular face

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Low-set ears Abnormal facial shape Long philtrum Micrognathia Ptosis Talipes equinovarus Epicanthus Short neck Scoliosis Kyphoscoliosis Pes planus Macrocephaly Delayed speech and language development High, narrow palate Hearing impairment Wide nasal bridge Posteriorly rotated ears Joint laxity Flexion contracture Abnormality of the foot Mandibular prognathia

Rare Symptoms - Less than 30% cases

Malar flattening Facial asymmetry Webbed neck Hyperlordosis Congenital hip dislocation Talipes Seizures Camptodactyly Lumbar hyperlordosis Telecanthus Broad nasal tip Cutis laxa Decreased body weight Pointed chin Short chin Cryptorchidism Abnormality of the pinna Knee flexion contracture Sparse eyebrow Cleft palate Growth delay Abnormality of skin pigmentation Ulnar deviation of the hand or of fingers of the hand Protruding ear Camptodactyly of finger Disproportionate tall stature Arthrogryposis multiplex congenita Distal arthrogryposis Prominent nasal bridge Feeding difficulties Postnatal growth retardation Pectus excavatum Proptosis Kyphosis Upslanted palpebral fissure Hydrocephalus Gait ataxia Ventriculomegaly Thin upper lip vermilion Abnormal cardiac septum morphology Failure to thrive Frontal bossing Broad-based gait Smooth philtrum Trismus Tricuspid regurgitation Bundle branch block Right bundle branch block Atrial septal defect Hernia Hip dysplasia Ulnar deviation of the wrist Calcaneovalgus deformity Convex nasal ridge Overlapping fingers Bilateral cryptorchidism Laryngomalacia Aortic regurgitation Mitral valve prolapse Abnormality of the hip bone Ulnar deviation of finger Aplasia/Hypoplasia of the radius Dental crowding Camptodactyly of toe Malar rash Nystagmus Brachycephaly Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Depressed nasal bridge Intrauterine growth retardation Hypoplasia of the corpus callosum Clinodactyly Synophrys Decreased head circumference Small hand Round ear Narrow forehead Hemivertebrae Sacral dimple Severe intrauterine growth retardation Deep palmar crease Macrodontia Entropion Prominent nasolabial fold Nevus flammeus of the forehead Reduced subcutaneous adipose tissue Abnormality of the ear Broad columella Overlapping toe Breast aplasia Joint stiffness Facial palsy Cleft lip Dandy-Walker malformation Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Pterygium Narrow mouth Bilateral talipes equinovarus Bifid uvula Decreased muscle mass Severe short stature Cutaneous finger syndactyly Elevated serum creatine phosphokinase Myopathy Submucous cleft hard palate Muscle weakness Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Limitation of joint mobility Single transverse palmar crease Pneumothorax Intellectual disability, mild Hand clenching Tarsal synostosis Hypoplasia of the musculature Wide nasal base Narrow naris Vertebral segmentation defect Mildly elevated creatine phosphokinase Multiple joint contractures Metatarsus adductus Biventricular hypertrophy Hypoplastic heart Syndactyly Hip dislocation Clinodactyly of the 5th finger Deeply set eye Rocker bottom foot Congenital contracture Retinopathy Adducted thumb Finger syndactyly Narrow palpebral fissure Bilateral single transverse palmar creases Ophthalmoplegia Narrow face Broad alveolar ridges Dental malocclusion Sparse or absent eyelashes Cerebellar hypoplasia Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Ataxia Cognitive impairment Myopia Cerebellar atrophy Absent speech Prominent forehead Sensory impairment Cerebral cortical atrophy Macrotia High forehead Difficulty walking Arachnodactyly Long face Abnormal cerebellum morphology Overgrowth High myopia Tall stature Large hands Long fingers Decreased nerve conduction velocity Wide nose Long foot High pitched voice Motor delay Midface retrusion Osteopenia Retrognathia Craniosynostosis Platyspondyly Recurrent fractures Oligohydramnios Blue sclerae Wormian bones Microretrognathia Reduced bone mineral density Thin ribs Distal sensory impairment Turricephaly Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Strabismus Peripheral neuropathy Areflexia Abnormal heart morphology Constipation Poor speech Unsteady gait Megalencephaly Communicating hydrocephalus Gingival fibromatosis Dermal atrophy Ectodermal dysplasia Underdeveloped nasal alae 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 Hyperextensible skin Atresia of the external auditory canal Hirsutism Redundant skin 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 Delayed eruption of teeth Bulbous nose Slender build Neurofibromas Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Neoplasm Hyperactivity Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Specific learning disability Low posterior hairline Cafe-au-lait spot Multiple lipomas Thin vermilion border Abnormality of the sternum Freckling Multiple cafe-au-lait spots Neoplasm of the lung Lisch nodules Axillary freckling Anteverted nares Hypospadias Rigidity Conductive hearing impairment Wide mouth Microtia Dry skin Absent phalangeal crease


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