High palate, and Webbed neck

Diseases related with High palate and Webbed neck

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


Top matches:

High match PREMATURE OVARIAN FAILURE 1; POF1


Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

High match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

High match ISOLATED KLIPPEL-FEIL 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match RICHIERI COSTA-PEREIRA SYNDROME


Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

High match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

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

High match SHELDON-HALL 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

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

High match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

High match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Top 5 symptoms//phenotypes associated to High palate and Webbed neck

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with High palate and Webbed neck. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Talipes equinovarus Pectus excavatum Flexion contracture Camptodactyly Hearing impairment Scoliosis Anteverted nares Cleft palate Short neck Facial asymmetry Intellectual disability Abnormal facial shape Cryptorchidism Generalized hypotonia Feeding difficulties Abnormality of the foot Low posterior hairline Clinodactyly Posteriorly rotated ears Long philtrum Narrow mouth Protruding ear Bifid uvula Arthrogryposis multiplex congenita Kyphoscoliosis Epicanthus Cognitive impairment

Rare Symptoms - Less than 30% cases


Mandibular prognathia Myopia Macrocephaly Talipes Overlapping fingers Camptodactyly of finger High myopia Seizures Syndactyly Cervical C2/C3 vertebral fusion Strabismus Respiratory distress Clinodactyly of the 5th finger Thoracolumbar scoliosis Triangular face Hip dislocation Upslanted palpebral fissure Absent speech Short phalanx of finger Brachycephaly Bulbous nose Myopathy Bilateral talipes equinovarus Prominent nasal bridge Smooth philtrum Acetabular dysplasia Muscle weakness Microcephaly Wide intermamillary distance Fused cervical vertebrae Cystic hygroma Wide nasal bridge Down-sloping shoulders Pterygium Distal arthrogryposis Dandy-Walker malformation Decreased muscle mass Short nose Atrial septal defect Sensorineural hearing impairment Ventricular septal defect Overlapping toe Ulnar deviation of the hand or of fingers of the hand Adducted thumb Congenital hip dislocation Craniosynostosis Narrow face Cleft lip Downslanted palpebral fissures Abnormality of the pinna Difficulty walking Postural instability Recurrent fractures High, narrow palate Intellectual disability, moderate Abnormality of movement Narrow palpebral fissure Bilateral single transverse palmar creases Unsteady gait Pectus carinatum Short philtrum Synophrys Arachnodactyly Short chin Tarsal synostosis Rocker bottom foot Osteoporosis Mildly elevated creatine phosphokinase Abnormality of the ear Abnormality of the hip bone Ulnar deviation of finger Aplasia/Hypoplasia of the radius Trismus Vertebral segmentation defect Calcaneovalgus deformity Ulnar deviation of the wrist Prominent nasolabial fold Myoclonus Round ear Absent phalangeal crease Multiple joint contractures Muscular hypotonia Delayed speech and language development Dysarthria Metatarsus adductus Gait disturbance Congenital contracture Generalized myoclonic seizures Patent ductus arteriosus Intellectual disability, profound Hypermetropia Moderate global developmental delay Long toe Hypochromic anemia Short 2nd finger Cataract Depressed nasal bridge Ventriculomegaly Hydrocephalus Edema Behavioral abnormality Cerebellar hypoplasia Micropenis Retrognathia Abnormality of eye movement Hypoparathyroidism Hypotelorism Apraxia Heterotopia Oculomotor apraxia Lissencephaly Plagiocephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Pleural effusion Hypoplasia of the brainstem Pericardial effusion Cerebellar dysplasia Hand clenching Sparse lateral eyebrow Microcytic anemia Thick lower lip vermilion Long hallux Broad-based gait Tall stature Dental crowding Hyperpigmentation of the skin Spontaneous abortion Nasal speech Sparse eyebrow Disproportionate tall stature Long fingers Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Narrow palm Preauricular skin tag Focal motor seizures Long palm Asymmetry of the ears Dysphagia Inguinal hernia Osteopenia Developmental regression Wide mouth Tapered finger Hypodontia Dental malocclusion Hip dysplasia Mitral regurgitation Hypoplasia of dental enamel Slender finger Lumbar hyperlordosis Joint stiffness Menstrual irregularities Abnormal cranial nerve morphology Ectopic anus Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Hypergalactosemia Increased circulating gonadotropin level Abnormality of the vertebral column Prominent nose Short metacarpal Limb undergrowth Short thumb Hoarse voice Microretrognathia Abnormality of the outer ear Hypoplasia of the radius Abnormality of the hand Abnormality of the voice Proximal placement of thumb Hypoplasia of the ulna Sprengel anomaly Vertebral fusion Fibular hypoplasia Atrial septal dilatation Hypertrophic cardiomyopathy Leukemia Dolichocephaly Pulmonic stenosis Mitral valve prolapse Deep philtrum Scaphocephaly Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Dysplastic pulmonary valve Hemiplegia/hemiparesis Frontal bossing Abnormality of cardiovascular system morphology Polydactyly Conductive hearing impairment Abnormality of the kidney Anal atresia Cleft upper lip Flat face Postaxial polydactyly Abnormality of the ribs Spina bifida Renal hypoplasia/aplasia Mesomelia Pierre-Robin sequence Facial palsy Single transverse palmar crease Intellectual disability, mild Amenorrhea Deeply set eye Autoimmunity Hyperlordosis Retinopathy Finger syndactyly Sparse hair Ophthalmoplegia Abnormality of metabolism/homeostasis Abnormality of skin pigmentation Limitation of joint mobility Limitation of neck motion Polyhydramnios Interphalangeal joint contracture of finger Abnormal vertebral morphology Knee flexion contracture Cutaneous finger syndactyly Submucous cleft hard palate Abnormality of the rib cage Decreased hip abduction Camptodactyly of toe Malar flattening Elevated serum creatine phosphokinase Severe short stature Premature ovarian insufficiency Nemaline bodies Short tibia Primary adrenal insufficiency Abnormality of the larynx Hip subluxation Hypoplasia of the epiglottis Radial deviation of the hand Absent foot Tibial deviation of toes Aplasia of the epiglottis Agenesis of mandibular central incisor Pansynostosis Abnormality of the aryepiglottic fold Cleft lower alveolar ridge Cleft mandible Gonadal dysgenesis Centrally nucleated skeletal muscle fibers Motor delay Hypertension Cardiomyopathy Fatigable weakness Secondary amenorrhea Thin upper lip vermilion Falls Everted lower lip vermilion Underdeveloped nasal alae Frequent falls Bilateral ptosis Mild short stature Kinked brainstem



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Ectodermal dysplasia, related diseases and genetic alterations Autoimmunity and Elevated serum creatine phosphokinase, related diseases and genetic alterations Lymphoma and Optic atrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more