Delayed speech and language development, and Clinodactyly

Diseases related with Delayed speech and language development and Clinodactyly

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


Top matches:

Low 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

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Low match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 91; MRX91

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO MESH UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

Low 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

Low match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET MONDO

More info about YOU-HOOVER-FONG SYNDROME; YHFS

Low 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

Low 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

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 Is also known as encephalopathy, fatal infantile, with mitochondrial respiratory chain defects;fatal infantile encephalopathy with mitochondrial respiratory chain defects; pch6

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET SCTID MESH GARD DOID UMLS MONDO OMIM

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Clinodactyly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Absent speech Pica Short stature Spasticity Clinodactyly of the 5th finger Abnormal facial shape Hyperreflexia Motor delay Upslanted palpebral fissure Epicanthus Muscular hypotonia Feeding difficulties Intellectual disability, mild Autosomal dominant inheritance Hypertelorism

Rare Symptoms - Less than 30% cases


Sandal gap Syndactyly Small hand Brachydactyly Thin upper lip vermilion Agenesis of corpus callosum Cognitive impairment Congenital onset Autosomal recessive inheritance Scoliosis Obesity Aggressive behavior X-linked recessive inheritance Short nose Adducted thumb Oxycephaly Megaloblastic anemia Dyslexia Hyperuricemia Aplasia of the inferior half of the cerebellar vermis Hydrocephalus Macrocephaly Babinski sign Ventriculomegaly Pes cavus Gait disturbance Talipes equinovarus Kyphosis Small cerebral cortex Short philtrum Periventricular leukomalacia Hyperlordosis Ptosis Excessive purine production Hyperuricosuria Wide nasal bridge Testicular atrophy Ventricular septal defect Focal dystonia Atrial septal defect Mild microcephaly Self-mutilation Abnormality of cardiovascular system morphology Posteriorly rotated ears Narrow mouth Abnormal heart morphology Podagra Camptodactyly Joint hypermobility Camptodactyly of finger Hand clenching Abnormality of the nervous system Progressive microcephaly Full cheeks Increased serum lactate Generalized myoclonic seizures Narrow forehead Cerebellar vermis hypoplasia Progressive visual loss Generalized seizures Lower limb spasticity Narrow palate Deeply set eye Poor head control Poor suck Global brain atrophy Atrophy/Degeneration affecting the brainstem Death in childhood Upper airway obstruction Increased CSF lactate Upper limb spasticity Infantile encephalopathy Lethargy Prominent nasal bridge Spastic paraplegia Aqueductal stenosis Paraplegia Lumbar hyperlordosis Spastic paraparesis Paraparesis Hemiplegia/hemiparesis Aphasia Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Opisthotonus Apnea Failure to thrive Optic atrophy Edema Cerebellar atrophy Cerebral atrophy Encephalopathy Cerebellar hypoplasia Progressive Visual loss Gout Anemia Self-injurious behavior High palate Underdeveloped nasal alae Prominent nose Short palpebral fissure Postnatal microcephaly Broad hallux Overlapping toe Slender finger X-linked inheritance Hypermetropia Severe global developmental delay Short foot Low posterior hairline X-linked dominant inheritance Severe muscular hypotonia Cubitus valgus Short 5th finger Macrodontia Broad nasal tip Abnormality of the cerebral white matter Low-set ears Short distal phalanx of the 2nd finger Arachnodactyly Short middle phalanx of the 5th finger Short distal phalanx of the thumb Short 2nd finger Short proximal phalanx of finger Poor motor coordination Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short proximal phalanx of thumb Depressed nasal bridge Pes planus Long philtrum Wide mouth Downturned corners of mouth Pointed chin Micrognathia Cataract Myopia Abnormality of the skeletal system Cryptorchidism Micropenis Proximal placement of thumb Vomiting Blue sclerae Cortical visual impairment Rotary nystagmus Ankyloglossia Flexion contracture Dysarthria Dysphagia Dystonia Nephropathy Abnormality of movement Abnormality of extrapyramidal motor function Athetosis Choreoathetosis Nephrolithiasis Clumsiness Spastic gait Cerebral palsy Finger clinodactyly Chorea Toe syndactyly Autism Central sleep apnea Autistic behavior Apraxia Large fontanelles Trigonocephaly Delayed cranial suture closure Hallux valgus Speech apraxia Perseveration Premature adrenarche Pectus carinatum Hearing impairment Ataxia Nystagmus Cleft palate Visual impairment Pectus excavatum Kyphoscoliosis Joint laxity Small posterior fossa



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