Delayed speech and language development, and Clinodactyly of the 5th finger

Diseases related with Delayed speech and language development and Clinodactyly of the 5th finger

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


Top matches:

Medium match BRACHYDACTYLY, TYPE A1, D; BDA1D

Related symptoms:

  • Autosomal dominant inheritance
  • Delayed speech and language development
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Syndactyly


SOURCES: DOID UMLS MONDO OMIM

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Medium match CHROMOSOME 16p13.2 DELETION SYNDROME

CHROMOSOME 16p13.2 DELETION SYNDROME Is also known as ;del(16)(p13.2); monosomy 16p13.2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM ORPHANET

More info about CHROMOSOME 16p13.2 DELETION SYNDROME

Medium match LESCH-NYHAN SYNDROME; LNS

LESCH-NYHAN SYNDROME; LNS Is also known as hypoxanthine guanine phosphoribosyltransferase 1 deficiency, hprt1 deficiency, hprt deficiency, hprt deficiency, complete

Related symptoms:

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


SOURCES: ORPHANET OMIM ICD10

More info about LESCH-NYHAN SYNDROME; LNS

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Other less relevant matches:

Medium match MASA SYNDROME

The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see {182600}), and autosomal recessive (see {270800}) forms of SPG have been described.Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed (Winter et al., 1989).See {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome. Genetic Heterogeneity of X-linked Spastic ParaplegiaOther forms of X-linked spastic paraplegia include SPG2 (OMIM ), caused by mutation in the myelin proteolipid protein gene (PLP1 ); SPG16 (OMIM ), mapped to Xq11.2-q23; and SPG34 (OMIM ), mapped to Xq24-q25.

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

Related symptoms:

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


SOURCES: GARD NCIT MONDO OMIM UMLS SCTID DOID ORPHANET

More info about MASA SYNDROME

Medium match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q16 DELETION SYNDROME

Medium match CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems (Bundey et al., 1994; Burnside et al., 2011).See also chromosome 15q13.3 deletion syndrome (OMIM ) and chromosome 15q11.2 deletion syndrome (OMIM ).For a discussion of genetic heterogeneity of autism, see {209850}.

CHROMOSOME 15q11-q13 DUPLICATION SYNDROME Is also known as duplication 15q11-q13 syndrome;15q11-q13 duplication syndrome; 15q11-q13 microduplication syndrome; 15q11q13 duplication syndrome; dup(15)(q11q13); trisomy 15q11-q13; trisomy 15q11q13

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: NCIT SCTID MONDO OMIM ORPHANET UMLS

More info about CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

Medium match 2Q23.1 MICRODELETION SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Micrognathia


SOURCES: GARD OMIM UMLS MESH MONDO

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM UMLS MONDO

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match MENTAL RETARDATION, X-LINKED 98; MRX98

X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).

MENTAL RETARDATION, X-LINKED 98; MRX98 Is also known as ;

Related symptoms:

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


SOURCES: UMLS OMIM SCTID MONDO ORPHANET

More info about MENTAL RETARDATION, X-LINKED 98; MRX98

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Clinodactyly Autism X-linked recessive inheritance Seizures Microcephaly Motor delay Autistic behavior EEG abnormality Brachycephaly Downslanted palpebral fissures Thin vermilion border Low-set ears Autosomal dominant inheritance Abnormal facial shape Stereotypy Pica Finger clinodactyly Macrocephaly Spasticity Cognitive impairment Epicanthus

Rare Symptoms - Less than 30% cases


Growth delay Abnormality of cardiovascular system morphology Talipes equinovarus Aphasia Ventriculomegaly Long nose Prominent nasal bridge Short palm Dental crowding Short foot Myopia Macrotia Hypoplasia of the corpus callosum Round face Failure to thrive Constipation Hyperactivity Broad forehead Synophrys Open mouth Tented upper lip vermilion Status epilepticus Micrognathia Cataract Polyphagia Narrow mouth Short philtrum Delayed eruption of teeth Cerebral cortical atrophy Esotropia Underdeveloped nasal alae Ataxia Narrow nose Nephrotic syndrome Malar flattening Anemia Brachydactyly Absent speech Syndactyly Hyperreflexia Self-injurious behavior Intellectual disability, mild Aggressive behavior Apraxia Large fontanelles Cryptorchidism Poor motor coordination Triangular face Generalized seizures Telecanthus Toe syndactyly Hypsarrhythmia Microcornea Hypoplasia of the maxilla Small hand Tetraparesis Dental malocclusion Narrow forehead Poor speech Short palpebral fissure Single transverse palmar crease Severe global developmental delay Delayed skeletal maturation Long philtrum Microphthalmia Generalized hirsutism Coarse facial features Protruding tongue Poor eye contact Everted lower lip vermilion Highly arched eyebrow Sleep disturbance Hypoplasia of penis Hip dysplasia Shawl scrotum Sandal gap Abnormality of the dentition Abnormality of the musculature Macrodontia Coarse hair Paroxysmal bursts of laughter Autosomal recessive inheritance Drooling Absence seizures Postnatal microcephaly Frontal bossing Fine hair Sparse scalp hair Nephrocalcinosis Postnatal growth retardation Conductive hearing impairment 2-4 toe cutaneous syndactyly Hearing impairment Sensorineural hearing impairment Broad distal phalanx of finger Short neck Midface retrusion Patent ductus arteriosus Pes planus Elliptocytosis Large forehead Fifth finger distal phalanx clinodactyly Severe sensorineural hearing impairment Hydronephrosis Hypercalciuria Thin upper lip vermilion Patent foramen ovale Talipes Flat face Joint hypermobility Bifid uvula Calcinosis 4-5 finger syndactyly Macrodontia of permanent maxillary central incisor Renal dysplasia Abnormality of dental morphology Neonatal hypotonia Overgrowth Muscular hypotonia of the trunk Gastroesophageal reflux Hypothyroidism Abnormality of dental enamel Gait ataxia Congenital onset Sparse eyelashes Short nose Hyperostosis Persistent pupillary membrane Feeding difficulties Basal ganglia calcification Spinal cord compression Large earlobe Mild global developmental delay Cleft hard palate Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Cleft palate Finger syndactyly Intellectual disability, severe Excessive purine production Cerebral palsy Proximal placement of thumb Opisthotonus Gout Hyperuricemia Dyslexia Megaloblastic anemia Self-mutilation Focal dystonia Testicular atrophy Hyperuricosuria Podagra Clumsiness Scoliosis Gait disturbance Hydrocephalus Kyphosis Pes cavus Babinski sign Agenesis of corpus callosum Oxycephaly Camptodactyly of finger Hyperlordosis Abnormality of the nervous system Spastic gait Nephrolithiasis Paraplegia Hallux valgus Arachnodactyly Short middle phalanx of the 5th finger Short distal phalanx of the thumb Short 2nd finger Short proximal phalanx of finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short proximal phalanx of thumb Short distal phalanx of the 2nd finger Micropenis Trigonocephaly Delayed cranial suture closure Speech apraxia Choreoathetosis Perseveration Central sleep apnea Premature adrenarche Flexion contracture Dysarthria Dysphagia Dystonia Vomiting Nephropathy Abnormality of extrapyramidal motor function Athetosis Spastic paraplegia Lumbar hyperlordosis Severe expressive language delay Mask-like facies Attention deficit hyperactivity disorder Joint hyperflexibility Lactic acidosis Lethargy Thick vermilion border Focal seizures Febrile seizures Intellectual disability, profound Epileptic encephalopathy Childhood onset Emotional lability Focal seizures with impairment of consciousness or awareness Apnea Obsessive-compulsive behavior Multifactorial inheritance Hyperventilation Increased serum serotonin Impaired use of nonverbal behaviors Restrictive behavior Lack of spontaneous play Inflexible adherence to routines or rituals Expressive language delay Shyness Impaired ability to form peer relationships Developmental regression Anxiety Spastic paraparesis Obesity Paraparesis Adducted thumb Hemiplegia/hemiparesis Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Hypertelorism Nystagmus High palate Bulbous nose Wide mouth Tapered finger Full cheeks Microretrognathia Misalignment of teeth Wide nasal bridge Tics Behavioral abnormality Encephalopathy Heterogeneous Depressivity Acidosis Sporadic Central hypothyroidism



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