Cleft palate, and Tapered finger

Diseases related with Cleft palate and Tapered finger

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


Top matches:

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

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Other less relevant matches:

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Medium match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Medium match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Medium match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Top 5 symptoms//phenotypes associated to Cleft palate and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Tapered finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Midface retrusion Hypoplasia of the corpus callosum Thin upper lip vermilion Clinodactyly Delayed speech and language development Low-set ears Micrognathia Wide nasal bridge Sparse scalp hair Short nose Single transverse palmar crease Macrocephaly High palate Talipes equinovarus Atrial septal defect Muscular hypotonia Growth delay Short philtrum Depressed nasal bridge Epicanthus Hypospadias Intellectual disability, severe Coarse facial features Hyperactivity Macrotia Aggressive behavior Cleft lip Attention deficit hyperactivity disorder Severe global developmental delay Short neck Broad nasal tip Thick vermilion border Absent speech Sloping forehead Cryptorchidism Small hand Recurrent respiratory infections Clinodactyly of the 5th finger Abnormality of the dentition Frontal bossing Scoliosis Joint laxity Small nail Long philtrum Failure to thrive Plagiocephaly Wide intermamillary distance Hernia Hydronephrosis Constipation Patent ductus arteriosus Low-set, posteriorly rotated ears Ventriculomegaly Pectus excavatum

Rare Symptoms - Less than 30% cases


Deep philtrum Respiratory distress Feeding difficulties Prominent forehead Short foot Hip dysplasia Dandy-Walker malformation Wormian bones High, narrow palate Delayed eruption of teeth Cataract Oral cleft Mandibular prognathia Brachycephaly Short distal phalanx of finger Highly arched eyebrow Tented upper lip vermilion Anxiety Anal atresia Bulbous nose Anteverted nares Stereotypy Ventricular septal defect Pulmonary arterial hypertension Broad thumb Aganglionic megacolon Gastroesophageal reflux Prominent nasal bridge Cerebellar hypoplasia Abnormality of the genitourinary system Facial asymmetry Prominent nose Wide mouth Respiratory tract infection Pulmonic stenosis Sparse hair Pneumonia Sensorineural hearing impairment Inguinal hernia Pectus carinatum Hypertension Everted lower lip vermilion Brachydactyly Strabismus Myopia Obesity Short palpebral fissure Carious teeth Micropenis Downturned corners of mouth Inability to walk Long face Gait ataxia Upslanted palpebral fissure Progressive microcephaly Microphthalmia Autism Motor delay Small for gestational age Behavioral abnormality Long fingers Depressivity Unilateral renal agenesis Iron deficiency anemia Failure to thrive in infancy Intellectual disability, moderate Cutis laxa Leukopenia Recurrent bacterial infections Lymphopenia Bronchiectasis Mitral regurgitation Joint hyperflexibility Abnormality of skin pigmentation Renal agenesis Abnormality of lipid metabolism Varicose veins Gait disturbance Bifid scrotum Hypoplasia of the maxilla Specific learning disability Optic disc pallor Blue sclerae Pachygyria Long eyelashes Sparse and thin eyebrow Pointed chin Oligodontia Neonatal sepsis Intermittent thrombocytopenia Sparse eyebrow Hypoplasia of the brainstem Premature loss of teeth Megalocornea Corneal erosion Corneal ulceration Ataxia Monocytosis Erythroid hypoplasia Congenital neutropenia Cognitive impairment Giant platelets Hypoplasia of the thymus Prominent superficial veins Asthma Psychosis Hepatosplenomegaly Dental crowding Testicular torsion Finger clinodactyly Narrow palpebral fissure Abnormality of the hand Short middle phalanx of finger Infantile spasms Arachnoid cyst High anterior hairline Large forehead Lower limb asymmetry Tics Periventricular leukomalacia Diaphragmatic eventration Abnormal cortical gyration Flared nostrils Sacral dimple Renal dysplasia Pes cavus Polydactyly Hip dislocation Choanal atresia Hypertrichosis Hypotelorism Smooth philtrum Narrow forehead Bifid uvula Postaxial polydactyly Thick lower lip vermilion Abnormality of thyroid physiology Sepsis Narrow face Neutropenia Astigmatism Anorexia Thrombocytopenia Recurrent infections Kyphosis Splenomegaly Respiratory insufficiency Hepatomegaly Anemia Aortic valve stenosis Aspiration Horseshoe kidney Conductive hearing impairment Sandal gap Nasal speech Bipolar affective disorder Shallow orbits Broad face Subvalvular aortic stenosis Six lumbar vertebrae Muscle weakness Intrauterine growth retardation Unilateral breast hypoplasia High forehead Kyphoscoliosis Retrognathia Hypermetropia Scaphocephaly Iris coloboma Birth length less than 3rd percentile Tetraparesis Open mouth Lower limb spasticity Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Tall chin Growth hormone deficiency Osteoporosis Skeletal dysplasia Broad forehead Narrow chest Genu valgum Recurrent fractures Abnormality of the ribs Large fontanelles Abnormality of epiphysis morphology Sinusitis Hemivertebrae Abnormality of dental enamel Coxa vara Spina bifida occulta Hypoplasia of penis Round face Abnormality of the metacarpal bones Ureterocele Narrow mouth Osteopenia Pes planus Abnormality of the pinna Blepharophimosis Microtia Flat face Short palm Microcornea Microdontia Scrotal hypoplasia Overfolded helix Broad neck Nystagmus Full cheeks Spasticity Hyperreflexia Hypertonia Babinski sign Hypogonadism Diabetes mellitus Acidosis Difficulty walking EEG abnormality Hypoglycemia Muscular hypotonia of the trunk Delayed puberty Poor speech Lactic acidosis Sleep apnea Abnormality of pelvic girdle bone morphology Thick eyebrow Long palpebral fissure Abnormality of the rib cage U-Shaped upper lip vermilion Facial capillary hemangioma Hydrocephalus Malar flattening Abnormality of the nervous system Autistic behavior Abnormality of the liver Cleft upper lip Short toe Infantile muscular hypotonia Elevated alkaline phosphatase Cupped ear Anteriorly placed anus Hyperactive deep tendon reflexes Abnormally large globe Thickened helices Profound global developmental delay Delayed ossification of carpal bones Shortening of all distal phalanges of the fingers Ptosis Telecanthus Camptodactyly Protruding ear Craniosynostosis Coloboma Finger syndactyly Synophrys Polymicrogyria Thickened nuchal skin fold Broad palm Chronic otitis media Dimple chin Open bite Increased number of teeth Short clavicles Sprengel anomaly Glossoptosis Hearing abnormality Hypoplasia of the zygomatic bone Down-sloping shoulders Hypoplastic scapulae Decreased skull ossification Dystrophic toenail Dystrophic fingernails Abnormality of the thumb Abnormal sacrum morphology Short finger Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Shoulder muscle hypoplasia Short face Cervical segmentation defect Neck muscle hypoplasia Dolichocephaly Wide nose Congenital hip dislocation Multicystic kidney dysplasia Intellectual disability, progressive Recurrent upper respiratory tract infections Radial deviation of finger Cor triatriatum



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