Intellectual disability, severe, and Short phalanx of finger

Diseases related with Intellectual disability, severe and Short phalanx of finger

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Short phalanx of finger that can help you solving undiagnosed cases.

Top matches:

Medium match JAWAD SYNDROME

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Other less relevant matches:

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

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

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

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. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Short phalanx of finger

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Short phalanx of finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Short distal phalanx of finger Growth delay Downslanted palpebral fissures Wide nasal bridge Absent speech Sparse hair Muscular hypotonia Tapered finger Micrognathia Cleft palate Atrial septal defect Feeding difficulties Deeply set eye Upslanted palpebral fissure Intellectual disability, moderate Severe short stature Smooth philtrum Thin upper lip vermilion Frontal bossing Wide nose Abnormality of the dentition Failure to thrive Small nail Coarse facial features Full cheeks Malar flattening Thick eyebrow Brachydactyly Spasticity Macrocephaly Depressed nasal bridge High palate Hypoplasia of the maxilla Hypertelorism Hearing impairment Scoliosis Aggressive behavior Micropenis Cataract Sparse scalp hair

Rare Symptoms - Less than 30% cases

Highly arched eyebrow Myopia Short toe Broad nasal tip Nystagmus Strabismus Oral cleft Ventricular septal defect Talipes equinovarus Severe global developmental delay Respiratory insufficiency Short philtrum Autistic behavior Cleft lip Hypothyroidism Short middle phalanx of finger Sensorineural hearing impairment Mandibular prognathia Posteriorly rotated ears Decreased body weight Clinodactyly Narrow nasal bridge Hypertrichosis Long eyelashes Widely spaced teeth Mutism Dysphasia Aphasia Echolalia Limitation of joint mobility Broad columella Hernia Alopecia Abnormality of epiphysis morphology Obesity Blepharophimosis Narrow palpebral fissure Specific learning disability Thin vermilion border Autism Decreased testicular size Macrotia Prominent nasal bridge Hypermetropia Poor speech Paraplegia Short palm High, narrow palate Absent eyebrow Synophrys Visual impairment Intrauterine growth retardation Abnormality of the skeletal system Delayed skeletal maturation Brachycephaly Postnatal growth retardation Small for gestational age Sparse body hair Shortening of all distal phalanges of the fingers Intellectual disability, progressive Everted lower lip vermilion Abnormality of digit Syndactyly Hypotrichosis Anonychia Toe syndactyly Dry skin Eczema Microdontia Congenital microcephaly Hypodontia Low anterior hairline Thick nasal alae High anterior hairline Low hanging columella Prominent nose Single transverse palmar crease Underdeveloped nasal alae Prominent forehead Short chin Wide mouth Ptosis Long philtrum Thick vermilion border Respiratory distress Short nose Polydactyly Downturned corners of mouth Epicanthus Prominent supraorbital ridges Wide intermamillary distance Anteverted nares Pulmonary hypoplasia Multiple epiphyseal dysplasia Ichthyosis Flat face Polymicrogyria Delayed CNS myelination Flared metaphysis Limb undergrowth Concave nasal ridge Congenital diaphragmatic hernia Congenital contracture Polysplenia Abnormality of the metaphysis Rhizomelia Severe failure to thrive Spina bifida occulta Congenital cataract Epiphyseal stippling Epiphyseal dysplasia Pulmonic stenosis Brittle hair Kyphoscoliosis Generalized hirsutism Thoracic scoliosis Short middle phalanx of the 5th finger Supernumerary nipple 4-5 toe syndactyly Cutaneous syndactyly Finger clinodactyly Bilateral single transverse palmar creases Limb dystonia Single interphalangeal crease of fifth finger Postnatal microcephaly Absent fourth finger distal interphalangeal crease Fine hair Ambiguous genitalia Hirsutism Cutaneous finger syndactyly Limb hypertonia Cerebral cortical atrophy Frontal hirsutism Abnormality of metabolism/homeostasis Flexion contracture Pain Sloping forehead Bilateral cleft palate 2-4 toe syndactyly Enlarged epiphyses Narrow nose Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Anteverted ears Cutaneous syndactyly of toes Hallux valgus Coronal cleft vertebrae Status epilepticus Calcific stippling of infantile cartilaginous skeleton Hypoplasia of penis Hammertoe Scrotal hypoplasia Hypergonadotropic hypogonadism Gynecomastia Hyperpigmentation of the skin Heterotopia Narrow forehead Truncal obesity Amenorrhea Joint hyperflexibility Delayed puberty Abnormality of the pinna Feeding difficulties in infancy EEG abnormality Hypogonadism Abnormality of neuronal migration External genital hypoplasia Skeletal muscle atrophy Long ear Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Camptodactyly of toe Abnormality of the hip bone Large earlobe Short 5th finger Ketoacidosis Broad neck Broad foot Hypopituitarism Thickened calvaria Kyphosis Peripheral neuropathy Pregnancy exposure Abnormality of the metacarpal bones Drooling Sandal gap Accelerated skeletal maturation Joint dislocation Absence seizures Broad-based gait Overfolded helix Short palpebral fissure Thick lower lip vermilion Short metacarpal Triangular face Osteoporosis Retrognathia Abnormality of cardiovascular system morphology Short metatarsal Cone-shaped epiphysis Prominent proximal interphalangeal joints Broad distal phalanx of finger Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Excessive wrinkled skin Eclabion Protruding tongue Wide nasal base Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Abnormality of finger Epileptic spasms Bulbous nose Generalized tonic-clonic seizures Short neck Optic nerve hypoplasia Central hypothyroidism Retinal dysplasia Hypoplasia of the fovea Microglossia Posterior embryotoxon Anophthalmia Arnold-Chiari malformation Mandibular aplasia Microretrognathia Pigmentary retinopathy Microcornea Retinal dystrophy Astigmatism Retinopathy Ectopic posterior pituitary Macular scar Scarring Respiratory tract infection Abnormality of the liver Immunodeficiency Recurrent respiratory infections Abnormality of the nervous system Hydronephrosis Hyperhidrosis Constipation Proboscis Midface retrusion Hydrocephalus Delayed eruption of teeth Ectodermal dysplasia Myopic astigmatism Aglossia Coloboma Joint laxity Cleft upper lip Anodontia Anhidrotic ectodermal dysplasia Absent nipple Concave nail Anterior hypopituitarism Conical tooth Heat intolerance Taurodontia Abnormal oral mucosa morphology Soft skin Absent eyelashes Rhinitis Hypoplastic nipples Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Hypohidrotic ectodermal dysplasia Everted upper lip vermilion Photophobia Sparse and thin eyebrow Narrow mouth Depressed nasal ridge Agenesis of corpus callosum Microphthalmia Thin skin Hypohidrosis Hoarse voice Periorbital wrinkles Type I diabetes mellitus Sparse eyelashes Dysphonia Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Anal atresia Fever Finger syndactyly Facial hypotonia Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Shuffling gait Distal lower limb amyotrophy Restlessness Small forehead Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Short thumb Interphalangeal joint contracture of finger Low frustration tolerance Talipes calcaneovarus Adducted thumb Proptosis Neurological speech impairment Cerebral atrophy Broad forehead Neonatal hypotonia Muscular hypotonia of the trunk High forehead Anhidrosis Broad thumb Clinodactyly of the 5th finger Dystonia Hypertonia Cerebellar atrophy Optic atrophy Open mouth Short foot Falls Inability to walk Elevated alkaline phosphatase Profound global developmental delay Thickened helices Abnormally large globe Anteriorly placed anus Long palpebral fissure Cupped ear Tented upper lip vermilion Pseudoepiphysis of the thumb Infantile muscular hypotonia Plagiocephaly Absent nail of hallux Aganglionic megacolon Hypoplastic thumbnail Hypertension Delayed ossification of carpal bones Tented philtrum Myopathic facies Protruding ear Broad hallux Global brain atrophy Poor eye contact Spastic paraplegia Short columella Camptodactyly of finger Small thenar eminence Flat forehead Babinski sign Frontal upsweep of hair Pectus excavatum Pseudoepiphyses Hyperreflexia Delayed speech and language development Cognitive impairment Scheuermann-like vertebral changes


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