High palate, and Underdeveloped nasal alae

Diseases related with High palate and Underdeveloped nasal alae

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

Top matches:

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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

Other less relevant matches:

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

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

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

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

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

High 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

Top 5 symptoms//phenotypes associated to High palate and Underdeveloped nasal alae

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Underdeveloped nasal alae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Feeding difficulties Cryptorchidism Long philtrum Wide nasal bridge Low-set ears Micrognathia Short stature Scoliosis Talipes equinovarus Long palpebral fissure Depressed nasal bridge Epicanthus Hearing impairment Microtia Seizures Wide intermamillary distance Spasticity Hirsutism Hyperactivity Delayed speech and language development Thin upper lip vermilion Hypoplasia of the corpus callosum Bulbous nose

Rare Symptoms - Less than 30% cases

Short neck Ataxia Dental malocclusion Downturned corners of mouth Cupped ear Generalized hirsutism Anal atresia Pectus excavatum Short philtrum Craniosynostosis Atresia of the external auditory canal Ptosis Gastroesophageal reflux Inverted nipples Brachycephaly Failure to thrive High, narrow palate Flexion contracture Conductive hearing impairment Hypospadias Poor head control Progressive microcephaly Proptosis Encephalopathy Optic atrophy Hyperreflexia Hypertonia Cerebellar hypoplasia Visual impairment Growth delay Attention deficit hyperactivity disorder Wide mouth Absent speech Short nose Constipation Narrow mouth Anteverted nares Dental crowding Narrow chest Highly arched eyebrow Long eyelashes Delayed myelination Low anterior hairline Neonatal hypotonia Downslanted palpebral fissures Short columella Microphthalmia Poor speech Cleft palate Strabismus Postnatal microcephaly Sparse lateral eyebrow Midline nasal groove Wide nasal ridge Muscle weakness Abnormal vagina morphology Myopathy Vaginal atresia Motor delay Hypertension Cardiomyopathy Bicornuate uterus Overlapping toe Clinodactyly Abnormal hair pattern Falls Everted lower lip vermilion Webbed neck Low posterior hairline Thickened nuchal skin fold Sacral dimple Oligodontia Female pseudohermaphroditism Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Pain Cryptophthalmos Abnormality of the skeletal system Ventricular septal defect Urethral atresia Hyporeflexia Subglottic stenosis Polydactyly Abnormal cardiac septum morphology Neurological speech impairment Dolichocephaly Long face Postaxial polydactyly Abnormality of the middle ear Hip dysplasia Laryngeal stenosis Open mouth Bilateral ptosis Bicuspid aortic valve Frequent falls Anophthalmia Wide pubic symphysis Oral cleft Blindness Tracheal stenosis Myelomeningocele Breast aplasia Abnormality of cardiovascular system morphology Umbilical hernia Low-set, posteriorly rotated ears Finger syndactyly Toe syndactyly Cleft upper lip Pulmonary hypoplasia Pontocerebellar atrophy Ambiguous genitalia Hypoplasia of penis Renal hypoplasia Omphalocele Encephalocele Multicystic kidney dysplasia Abnormal lung lobation Scrotal hypoplasia External ear malformation Anal stenosis Lacrimal duct aplasia Calvarial skull defect Cleft ala nasi Mild short stature Cerebellar atrophy Centrally nucleated skeletal muscle fibers Vertebral segmentation defect Thoracolumbar scoliosis Nemaline bodies Bifid tongue Fused cervical vertebrae Acetabular dysplasia Cervical C2/C3 vertebral fusion Limitation of neck motion Edema Cerebral atrophy Hypoplasia of the pons Macrotia Muscular hypotonia of the trunk Ectopic anus Dyskinesia Full cheeks Hypsarrhythmia Decreased body weight Elbow flexion contracture Hypoplasia of the brainstem Thoracic scoliosis Progressive encephalopathy Broad alveolar ridges Visual fixation instability Sparse or absent eyelashes Median cleft palate Cutaneous syndactyly Overfolded helix Bilateral talipes equinovarus Long fingers Prominent metopic ridge Short clavicles Broad neck Asplenia Widow's peak Velopharyngeal insufficiency Upper eyelid coloboma Choanal atresia Gait disturbance Behavioral abnormality Gait ataxia Autism Pes planus Anxiety Aggressive behavior Joint laxity Developmental regression Hyperlordosis Autistic behavior Wide anterior fontanel Talipes Thick vermilion border Aciduria Muscular hypotonia Cataract Frontal bossing Dystonia Acidosis High forehead Sparse hair Lactic acidosis Hepatic failure Metabolic acidosis Infantile muscular hypotonia Midface retrusion Tented upper lip vermilion Adducted thumb Prominent nasal bridge Synophrys Thick eyebrow Single transverse palmar crease Prominent nose Broad hallux Unilateral cryptorchidism Curly eyelashes Syndactyly Pectus carinatum Abnormal cerebellum morphology Gingival fibromatosis Hyperextensible skin Triangular face Ectodermal dysplasia Abnormality of the skin Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Sparse and thin eyebrow Cutis laxa Dermal atrophy Thin vermilion border Redundant skin Sparse eyebrow Ectropion Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Taurodontia Skin tags Absent nipple Delayed eruption of teeth Dry skin Hypotelorism Brain atrophy Short palpebral fissure Thick lower lip vermilion Stereotypy Self-injurious behavior Obsessive-compulsive behavior Nystagmus Peripheral neuropathy Ventriculomegaly Cerebral cortical atrophy Irritability Abnormality of the cerebral white matter Esotropia Abnormality of the pinna Sensorimotor neuropathy Delayed gross motor development Cortical gyral simplification Progressive spasticity Poor eye contact Abnormality of brainstem morphology Delayed fine motor development Abnormality of the cerebral cortex Mandibular prognathia Rigidity Telecanthus Malformed lacrimal duct


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