Cleft palate, and Peripheral demyelination

Diseases related with Cleft palate and Peripheral demyelination

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


Top matches:

Low match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

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Other less relevant matches:

Low match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Low match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Low match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match MULTIPLE SULFATASE DEFICIENCY


Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Low match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Cleft palate and Peripheral demyelination

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Peripheral demyelination. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Spasticity

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Dysmetria Intellectual disability, severe Short neck Ventriculomegaly Talipes equinovarus Cerebellar atrophy Epicanthus Optic atrophy Abnormality of the cerebral white matter Abnormal facial shape Strabismus Ataxia Hyperreflexia Hyperactivity Depressed nasal bridge Delayed speech and language development Macrocephaly Short stature Muscle weakness Retrognathia Polyhydramnios Visual impairment Anteverted nares Hypospadias Skeletal muscle atrophy Micrognathia Flexion contracture Kyphosis Hypoplasia of the corpus callosum Hypertelorism Ventricular septal defect Hepatomegaly Cognitive impairment Areflexia Multicystic kidney dysplasia Depressivity Motor delay Osteopenia Frontal bossing Behavioral abnormality Long philtrum Sensorineural hearing impairment Feeding difficulties Gliosis Ptosis Recurrent infections Renal agenesis Low-set ears Aggressive behavior Inguinal hernia Cerebellar hypoplasia Severe short stature Posteriorly rotated ears Dysphagia Abnormality of cardiovascular system morphology Attention deficit hyperactivity disorder Hydronephrosis Mental deterioration Hyporeflexia Abnormality of the skeletal system Hypertonia

Rare Symptoms - Less than 30% cases


Autism Skeletal dysplasia Feeding difficulties in infancy Upslanted palpebral fissure Autistic behavior Vomiting Constipation Delayed skeletal maturation Pectus excavatum Wide nasal bridge Hypertension Sleep disturbance Polymicrogyria Cerebral dysmyelination Intrauterine growth retardation Delusions Impaired smooth pursuit Unilateral renal agenesis Holoprosencephaly Hallucinations Psychosis Amenorrhea Chorea Dysostosis multiplex Cerebral atrophy Renal cyst Progressive visual loss Developmental regression EEG abnormality Gait disturbance Cryptorchidism Dysarthria Atrophy/Degeneration affecting the brainstem Narrow palate Severe global developmental delay Leukodystrophy Respiratory failure Peripheral neuropathy Pes cavus Sensory neuropathy Babinski sign Visual loss Midface retrusion Tremor Neurological speech impairment Bowel incontinence Progressive neurologic deterioration Coarse facial features Narrow forehead Neurodegeneration Thick eyebrow Retinal degeneration Corneal opacity Neonatal hypotonia Hepatosplenomegaly Prominent forehead Aplasia/Hypoplasia of the cerebellum Split hand Splenomegaly Amblyopia Gingival overgrowth Precocious puberty Increased CSF protein Self-injurious behavior Hammertoe Bulbous nose Delayed myelination Hernia Specific learning disability Pectus carinatum Congenital contracture Fever Patent ductus arteriosus Submucous cleft hard palate Myopathy Talipes Renal hypoplasia Abnormal heart morphology Abnormal form of the vertebral bodies Umbilical hernia Pyloric stenosis Hypothyroidism Abnormality of the urinary system Pulmonary hypoplasia Dementia Renal hypoplasia/aplasia Bifid uvula Hypoplasia of the brainstem Dandy-Walker malformation Metatarsus adductus Decreased muscle mass Agenesis of corpus callosum Micropenis Renal dysplasia Congenital cataract Kyphoscoliosis Microphthalmia Abnormality of the kidney Anxiety Atrial septal defect Abnormality of the sternum Arthritis Immunodeficiency Blepharophimosis Respiratory tract infection Joint stiffness Abnormality of the pinna Dysphasia Oligosacchariduria Leukoencephalopathy Oral-pharyngeal dysphagia Encephalitis Sleep apnea Progressive spasticity Spondylolysis Increased vertebral height Emotional lability Dysphonia Chronic otitis media Muscle fibrillation Microcoria Smooth philtrum Vacuolated lymphocytes Skin rash Cranial hyperostosis Abnormality of the gingiva Long ear Retinal thinning Diffuse demyelination of the cerebral white matter Synostosis of joints Hyperpigmented nevi Drowsiness Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Increased hepatic glycogen content Hypothermia Megalencephaly Poor coordination Bulbar signs Generalized abnormality of skin Abnormal autonomic nervous system physiology Lactic acidosis Tented upper lip vermilion Sensorimotor neuropathy Exotropia Abnormality of joint mobility Sensory impairment Polyneuropathy Tapered finger Distal sensory impairment Distal amyotrophy Antineutrophil antibody positivity Abnormality of the ilium Pallor Irritability Difficulty walking Acidosis Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Myoclonus Respiratory distress Flattened moderately deformed vertebrae Steppage gait Inverted nipples Muscle stiffness Abnormal pyramidal sign Clonus Diplopia Cerebral calcification Hypotension Sudden cardiac death Tetraplegia Abnormality of eye movement Nausea and vomiting Cough Hyperlordosis Absent Achilles reflex Facial palsy Decreased pulmonary function Weight loss Diabetes mellitus Hyperhidrosis Respiratory insufficiency Hypoplastic inferior ilia Trophic changes related to pain Pontocerebellar atrophy Cone dysfunction syndrome Ichthyosis Abnormality of retinal pigmentation Flat face Hypsarrhythmia Macrotia Mandibular prognathia Gait ataxia Recurrent respiratory infections Malar flattening Intellectual disability, mild Abnormality of the dentition Myopia Pain Limb hypertonia Cerebral visual impairment Generalized cerebral atrophy/hypoplasia Hypermetropia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Broad forehead Abnormality of the foot Primary adrenal insufficiency Depressed nasal ridge Heart murmur Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Flat occiput Low anterior hairline Spastic gait Limb ataxia Tall stature Bowing of the long bones Hypertrichosis Pancytopenia Genu valgum Type II diabetes mellitus Optic disc pallor Hip dysplasia Otitis media Decreased antibody level in blood Dental malocclusion Progressive cerebellar ataxia Macroglossia Highly arched eyebrow Confusion Bowing of the legs Scaphocephaly Cortical dysplasia Thoracolumbar kyphosis Large forehead Hydrocele testis Hypoplastic vertebral bodies Mucopolysacchariduria Abnormality of peripheral nerve conduction Reduced ejection fraction Abnormality of the helix Periorbital edema CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Developmental stagnation Spondylolisthesis Urinary glycosaminoglycan excretion Craniofacial hyperostosis Abnormality of the periventricular white matter Abnormality of the rib cage Lower limb hyperreflexia Broad hallux Coarse hair Prominent supraorbital ridges Broad thumb Abnormal cornea morphology Synovitis Abnormal echocardiogram Retrocerebellar cyst Patellar dislocation Thoracic hypoplasia Dolichocephaly Delayed cranial suture closure Progressive hearing impairment Aspiration Large fontanelles Pachygyria Heterotopia Cholestasis Abdominal distention Ascites Hepatic steatosis Open bite Neurodevelopmental delay Rapid neurologic deterioration Femoral bowing Abnormality of the liver Thickened calvaria Elevated hepatic transaminase High forehead Pneumonia Bronchitis Limb dystonia Dilatation Aseptic necrosis Severe sensorineural hearing impairment Congestive heart failure Decreased nerve conduction velocity Abnormality of digit Sinus tachycardia Bipolar affective disorder Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Posterior embryotoxon Graves disease Anal stenosis Autoimmune thrombocytopenia Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Aplasia of the uterus Interrupted aortic arch Dysdiadochokinesis Vascular ring Syndactyly Short nose Diarrhea Edema Downslanted palpebral fissures Brachydactyly Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Central nervous system degeneration Perimembranous ventricular septal defect Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Rheumatoid arthritis Cholelithiasis Glaucoma Radioulnar synostosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Absent septum pellucidum Hydroureter Dextrocardia Mask-like facies Myotonia Joint contracture of the hand Abnormality of the cerebellar vermis Situs inversus totalis Wide anterior fontanel Abnormality of the face Short palpebral fissure Interphalangeal joint contracture of finger High, narrow palate Arachnodactyly Arthrogryposis multiplex congenita Muscular dystrophy Camptodactyly of finger Postnatal growth retardation Camptodactyly Narrow mouth Congenital ptosis Abnormality of the penis Nasal speech Underdeveloped nasal alae Abnormality of the hand Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Purpura Narrow palpebral fissure Hypocalcemia Spina bifida Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Vesicoureteral reflux Zollinger-Ellison syndrome Hemolytic anemia Anal atresia Pulmonic stenosis Autoimmunity Conductive hearing impairment Obesity Thrombocytopenia Absent speech Anemia Abnormal anatomic location of the heart Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Polydactyly Proptosis Vertical nystagmus Sex reversal Decreased circulating aldosterone level Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Excessive daytime somnolence Ureteropelvic junction obstruction Tracheal stenosis Sclerocornea Severe failure to thrive Microglossia Male pseudohermaphroditism Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Abnormal eyelash morphology Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Advanced eruption of teeth Ectopic calcification Aplasia/Hypoplasia of the radius Opsoclonus Metaphyseal cupping Thoracic scoliosis Generalized amyotrophy Short femoral neck Metaphyseal irregularity Coxa vara Decreased body weight Broad-based gait Asthma Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Severe photosensitivity Increased nuchal translucency Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Abnormality of the gallbladder Hypoplasia of the frontal lobes Periventricular gray matter heterotopia Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Mesomelic short stature Broad alveolar ridges Gastroschisis Hypopigmentation of hair Ulnar deviation of finger Gastroesophageal reflux Wide intermamillary distance Cutaneous photosensitivity Intellectual disability, profound Abnormality of the ribs Coarctation of aorta Congenital diaphragmatic hernia Decreased fetal movement Hypoplasia of penis Oligohydramnios Ambiguous genitalia Eczema Postaxial hand polydactyly Limb undergrowth Webbed neck Choanal atresia Intestinal malrotation Premature birth Hypopigmentation of the skin Iris coloboma Postaxial polydactyly Micromelia Toe syndactyly Hip dislocation Finger syndactyly Wide mouth Low-set, posteriorly rotated ears Intellectual disability, moderate Hypoglycemia Recurrent otitis media Abnormality of the genital system Increased number of teeth Hyponatremia Biparietal narrowing Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency 2-3 toe syndactyly Overlapping toe Cutis marmorata Abnormality of dental morphology Bifid scrotum Clitoral hypertrophy Proximal placement of thumb Poor suck Aganglionic megacolon Reduced number of teeth Optic nerve hypoplasia Abnormality of the metacarpal bones Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Abnormality of dental enamel Hyperbilirubinemia Short toe Short thumb Rhizomelia Dental crowding Spinocerebellar tract disease in lower limbs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Blepharophimosis, related diseases and genetic alterations Motor delay and Spastic paraplegia, related diseases and genetic alterations Fever and Urinary incontinence, related diseases and genetic alterations Spasticity and Sparse scalp hair, related diseases and genetic alterations

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