Intellectual disability, and Clinodactyly of the 5th finger

Diseases related with Intellectual disability and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Intellectual disability and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

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

MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Medium match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Medium match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

Top 5 symptoms//phenotypes associated to Intellectual disability and Clinodactyly of the 5th finger

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

Other less frequent symptoms

Patients with Intellectual disability and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Retrognathia Downslanted palpebral fissures Convex nasal ridge Finger clinodactyly Clinodactyly Narrow forehead Delayed skeletal maturation Scoliosis Delayed speech and language development Abnormal facial shape Strabismus

Rare Symptoms - Less than 30% cases

Mild global developmental delay Hypertelorism Cerebellar hypoplasia Hypospadias Growth delay Intrauterine growth retardation Intellectual disability, mild Brachydactyly Talipes equinovarus Short metacarpal Cone-shaped epiphysis Cognitive impairment Thin upper lip vermilion High palate Muscular hypotonia Cryptorchidism Wide nasal bridge Craniosynostosis Macrocephaly Low-set ears Aggressive behavior Spastic paraplegia Hydrocephalus Aqueductal stenosis Hand clenching Severe hydrocephalus Epicanthus Ventriculomegaly Gait disturbance Kyphosis Hypoplasia of the corpus callosum Intellectual disability, severe Obesity Shuffling gait Hyperactive deep tendon reflexes Down-sloping shoulders Abnormality of the nervous system Lumbar hyperlordosis Brachycephaly Camptodactyly of finger Muscle stiffness Paraparesis Hyperlordosis Spastic paraparesis Paraplegia Adducted thumb Pes cavus Hemiplegia/hemiparesis Aphasia Agenesis of corpus callosum Babinski sign Progressive spasticity Interphalangeal joint contracture of finger Underdeveloped supraorbital ridges Cerebral cortical atrophy Thick vermilion border Abnormality of earlobe Absent earlobe Nystagmus Ventricular septal defect Hypermetropia Astigmatism Wide nose Decreased testicular size Cachexia Open mouth Amblyopia Bicuspid aortic valve Drooling Spastic diplegia Supernumerary nipple High hypermetropia Slender finger Prematurely aged appearance Reduced number of teeth Abnormality of the pinna Abnormality of brain morphology Synophrys Downturned corners of mouth Tapered finger Generalized myoclonic seizures Round face Congenital hypothyroidism Malignant hyperthermia Congenital stationary night blindness Horizontal eyebrow Sandal gap Large fleshy ears Multifocal cerebral white matter abnormalities Glaucoma Joint hyperflexibility Hip dysplasia Sparse scalp hair Narrow face Abnormality of dental enamel Hyperreflexia Mesomelia Spasticity Microphthalmia Clitoral hypertrophy Proportionate short stature Abnormal cortical gyration 11 pairs of ribs Selective tooth agenesis Large beaked nose Motor delay Small for gestational age Sloping forehead Prominent nose Microdontia Cafe-au-lait spot Heart murmur Ectopic kidney High pitched voice Microglossia Oligodontia Hypodontia Short palm Hallux valgus Absent speech Micropenis Autism Autistic behavior Apraxia Large fontanelles Trigonocephaly Delayed cranial suture closure Prominent nasal bridge Speech apraxia Perseveration Central sleep apnea Premature adrenarche Severe short stature Pes planus Blepharophimosis Few cafe-au-lait spots Short distal phalanx of finger Scaphocephaly Pneumonia Abnormality of the ribs Hypoplasia of the radius Radioulnar synostosis Cortical gyral simplification Dislocated radial head Patellar aplasia Frontal bossing Prominent forehead Thin proximal phalanges with broad epiphyses of the hand Mandibular prognathia Hepatosplenomegaly Anxiety Broad nasal tip Stereotypy Recurrent pneumonia Microretrognathia Upslanted palpebral fissure Proportionate shortening of all digits Short foot Broad metacarpals Short thumb Short middle phalanx of finger Hypoplasia of the ulna Broad palm Ankylosis Short hallux Distal symphalangism of hands Absent distal interphalangeal creases Broad metacarpal epiphyses Radial deviation of the 2nd finger Short proximal phalanx of thumb 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 Periventricular leukomalacia


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