Intellectual disability, and Short distal phalanx of finger

Diseases related with Intellectual disability and Short distal phalanx of finger

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

Top matches:

Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Motor delay
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 3; AOS3

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Medium match DIHYDROPYRIMIDINURIA

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Other less relevant matches:

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

BRACHYDACTYLY TYPE A1 Is also known as farabee-type brachydactyly|brachydactyly, farabee type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE A1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10|gpibd10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4

CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Medium match BRACHYDACTYLY TYPE E

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).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
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1|opd i syndrome|taybi syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 1

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

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Hearing impairment Short nose Small nail Brachydactyly Growth delay

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Talipes equinovarus Short phalanx of finger Short palm Short metacarpal Short thumb Short hallux Ptosis Intrauterine growth retardation Anteverted nares Short philtrum Short metatarsal Full cheeks Long eyelashes Hypertelorism Cleft palate Wide nasal bridge Hypoplasia of the corpus callosum Absent speech Thin upper lip vermilion Cataract Sandal gap Feeding difficulties Short palpebral fissure Hypertrichosis Aplasia cutis congenita Midface retrusion Abnormal heart morphology Joint hypermobility Oligodontia Abnormality of the vertebral column Hypogonadism Autoimmunity Ichthyosis Anosmia Systemic lupus erythematosus Congenital sensorineural hearing impairment Epiphyseal stippling Failure to thrive Short nasal septum Maternal autoimmune disease Ataxia Nystagmus Macrocephaly Frontal bossing Joint hyperflexibility Vitamin K deficiency Large earlobe Tented philtrum Inability to walk Generalized hypotonia High forehead Sensorineural hearing impairment Long philtrum Blepharophimosis Upslanted palpebral fissure Absent toe Broad nasal tip Shortening of all distal phalanges of the fingers Generalized myoclonic seizures Generalized-onset seizure Involuntary movements Postnatal microcephaly Mutism Tented upper lip vermilion Elevated alkaline phosphatase Bruxism Round face Short clavicles Hypoplastic fifth toenail Increased bone mineral density Dystrophic toenail Abnormal corpus callosum morphology Thick nasal alae Downslanted palpebral fissures Skeletal dysplasia Limitation of joint mobility Bowing of the long bones Abnormality of the metacarpal bones Hypoplastic toenails Prominent supraorbital ridges Elbow dislocation Proximal placement of thumb Thickened calvaria Synostosis of carpal bones Anodontia Hypoplastic frontal sinuses Abnormal vertebral segmentation and fusion Slender finger 2-3 toe syndactyly Pseudohypoparathyroidism Recurrent infections Ectopic calcification Upper limb asymmetry Moderately short stature Multiple impacted teeth Type E brachydactyly Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Atrial septal defect Cerebellar hypoplasia Low anterior hairline Coarse facial features Wide mouth Arachnodactyly Thick eyebrow Wide nose Dandy-Walker malformation Thick lower lip vermilion Sparse scalp hair Abnormality of the columella Underdeveloped supraorbital ridges Abnormality of the nares Infantile spasms Cirrhosis Dyskinesia Metabolic acidosis Brain atrophy Hip dysplasia Cholestasis Plagiocephaly Excessive daytime somnolence Abnormality of the cerebral white matter Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Syndactyly Scoliosis Clinodactyly of the 5th finger Anal atresia Lethargy Short foot Absent toenail Agenesis of permanent teeth Abnormality of digit Severe sensorineural hearing impairment Conical tooth High-frequency hearing impairment Hypoplasia of teeth Selective tooth agenesis Anhidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia Abnormal pyramidal sign Bilateral triphalangeal thumbs Triphalangeal thumb Abnormality of the hand Delayed speech and language development Reduced number of teeth Diarrhea Acidosis Feeding difficulties in infancy Gingival overgrowth Bilateral sensorineural hearing impairment Proportionate short stature Everted lower lip vermilion Ectodermal dysplasia Toe syndactyly Dolichocephaly Clinodactyly Posteriorly rotated ears Nail dystrophy Thick vermilion border Highly arched eyebrow Low-set ears Deeply set eye Underdeveloped nasal alae Growth hormone deficiency Open mouth Pes planus Short chin Long nose Anonychia Motor delay Nail dysplasia Cone-shaped epiphysis Radial deviation of the 2nd finger Short middle phalanx of finger Hypoplasia of the ulna Broad palm Ankylosis Hypotelorism Distal symphalangism of hands Broad metacarpals Absent distal interphalangeal creases Short proximal phalanx of thumb Thin proximal phalanges with broad epiphyses of the hand Short proximal phalanx of hallux Slender metacarpals Flattened metatarsal heads Type A1 brachydactyly Radial deviation of the 4th finger Radial deviation of the 3rd finger Broad metacarpal epiphyses Proportionate shortening of all digits Abnormality of the tarsal bones


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