Delayed speech and language development, and Camptodactyly

Diseases related with Delayed speech and language development and Camptodactyly

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


Top matches:

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 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM UMLS

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

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Other less relevant matches:

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: MONDO EFO UMLS OMIM

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Is also known as ;autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; scar20

Related symptoms:

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


SOURCES: MONDO ORPHANET OMIM UMLS DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Low match GERODERMA OSTEODYSPLASTICUM; GO

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

More info about GERODERMA OSTEODYSPLASTICUM; GO

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

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


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Low match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Low match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

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

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

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

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Pica

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Seizures Growth delay Cognitive impairment Anteverted nares Kyphoscoliosis Autosomal dominant inheritance Short stature Autosomal recessive inheritance Flexion contracture Epicanthus Spasticity Strabismus Hernia Cryptorchidism Babinski sign Abnormality of the pinna Intellectual disability, mild Downslanted palpebral fissures Cerebellar atrophy Motor delay Long philtrum Agenesis of corpus callosum Wide nasal bridge Clinodactyly Narrow mouth Short philtrum Cutis laxa Joint hypermobility Ptosis

Rare Symptoms - Less than 30% cases


Inguinal hernia Hearing impairment Brachydactyly Recurrent fractures Absent speech Congenital onset Cerebral atrophy Gastroesophageal reflux Umbilical hernia Abnormality of the foot Redundant skin Thin skin Dental malocclusion Hypertrichosis Hypoplasia of the maxilla Pectus carinatum Gliosis Overbite Malar flattening Osteoporosis Mandibular prognathia Talipes Abnormality of the cerebral white matter Wide nasal base Wide mouth Hypoplasia of the corpus callosum Disproportionate tall stature Milia Dental crowding Abnormal facial shape Muscular hypotonia High palate Abnormality of the outer ear Spastic paraparesis Macrocephaly Ventriculomegaly Gait disturbance Sparse eyebrow Dysarthria Myopia Pectus excavatum Pes cavus X-linked recessive inheritance Oxycephaly Camptodactyly of finger Hyperextensibility of the finger joints Paraplegia Spastic paraplegia Hyperreflexia Clonus Micrognathia Feeding difficulties Ventricular septal defect Atrial septal defect Adducted thumb Corneal opacity Abnormality of skin pigmentation Cutaneous syndactyly Toe syndactyly Short chin Thin vermilion border Ectropion Bifid uvula Arachnodactyly Dry skin Short metacarpal Unsteady gait High, narrow palate Atresia of the external auditory canal Ambiguous genitalia Bulbous nose Sacral dimple Underdeveloped nasal alae Omphalocele Hypoplasia of penis Microdontia Fine hair Syndactyly Microtia Thick lower lip vermilion Broad-based gait Nasal speech Narrow face Hyperpigmentation of the skin Intellectual disability, profound Tall stature High myopia Long fingers Slender finger Epileptic spasms Slender build Long hallux Small earlobe Generalized myoclonic seizures Sparse hair Narrow palm Spontaneous abortion Focal motor seizures Long palm Asymmetry of the ears Depressed nasal bridge Wide intermamillary distance Webbed neck Postural instability Visual impairment Short nose Abnormality of the genital system Finger syndactyly Decreased muscle mass Muscle weakness Absent eyebrow Hallucinations Impaired vibratory sensation Hammertoe Emotional lability Abnormality of the hand Drooling Hoarse voice Childhood onset Overgrowth Slurred speech Lower limb spasticity Spastic gait Psychosis Specific learning disability Prominent nose Abnormal cerebellum morphology Sleep disturbance Spastic diplegia Ankle clonus Dysmetria Abnormality of the nares Suicidal ideation Morphea Hyperplasia of midface Panic attack Knee clonus Abnormality of brain morphology Abnormal hand morphology Upper limb spasticity Cerebellar vermis atrophy Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Scleroderma Premature loss of teeth Short foot Distal amyotrophy Abnormality of the mouth Labial hypoplasia Short upper lip Absent nipple Abnormal nasal morphology Excessive wrinkled skin Conical tooth Breast hypoplasia High-frequency hearing impairment Aplasia/Hypoplasia of the nipples Cryptophthalmos Abnormal hair pattern Abnormality of finger Absent eyelashes Hypoplasia of the zygomatic bone Corneal erosion Shallow orbits Hypoplastic nipples Abnormality of female external genitalia Absent hair Lower limb muscle weakness Abnormality of the skeletal system Genu valgum Difficulty walking Anxiety Hydronephrosis Gait ataxia Constipation Behavioral abnormality Dysphagia Ablepharon Skeletal muscle atrophy Low-set ears Facial asymmetry Long uvula Ventral hernia Hypoplasia of eyelid Microtia, third degree Smooth philtrum Abnormality of the eye Abnormality of movement Unilateral cryptorchidism Enlarged naris Prominent nasolabial fold Pursed lips Intrauterine growth retardation Edema Blepharophimosis Broad forehead Flat face Downturned corners of mouth Round face Phimosis Language impairment Bilateral ptosis Vertebral fusion Abnormal myelination Short columella Round ear Failure to thrive Cataract Myopathy Cardiomyopathy Congestive heart failure Pneumonia Retrognathia Micropenis Protruding ear Polymicrogyria Triangular face Sepsis Focal seizures Breathing dysregulation Hip contracture Sloping forehead Lumbar hyperlordosis Abnormality of cardiovascular system morphology Upslanted palpebral fissure Posteriorly rotated ears Abnormal heart morphology Thin upper lip vermilion Mild microcephaly Periventricular leukomalacia Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Hydrocephalus Kyphosis Clinodactyly of the 5th finger Hyperlordosis Abnormality of the nervous system Paraparesis Congenital contracture Respiratory insufficiency Neonatal respiratory distress Knee flexion contracture Elbow flexion contracture Full cheeks Poor speech Respiratory distress Short neck Hemiplegia/hemiparesis Hand clenching Aqueductal stenosis Shuffling gait Down-sloping shoulders Hyperactive deep tendon reflexes Aphasia Convex nasal ridge Pointed chin Synophrys Irregular vertebral endplates Hip dislocation Joint hyperflexibility Platyspondyly Microcornea Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Bowing of the long bones Congenital hip dislocation Wormian bones Abnormality of vision Hyperextensible skin Tibial bowing Femoral bowing Prematurely aged appearance Protuberant abdomen Joint laxity Progeroid facial appearance Vertebral compression fractures Beaking of vertebral bodies Periodontitis Premature skin wrinkling Biconcave vertebral bodies Abnormal bone ossification Pseudoepiphyses Stooped posture Cleft palate Brachycephaly Myoclonus Intellectual disability, moderate Prominent nasal bridge Deeply set eye EEG abnormality Narrow palpebral fissure Prominent forehead Focal seizures with impairment of consciousness or awareness Bundle branch block Right bundle branch block Entropion Cavum septum pellucidum Narrow naris Ataxia Nystagmus Sensorineural hearing impairment Infantile onset Splenomegaly Hyporeflexia Cerebellar hypoplasia Cerebral cortical atrophy Coarse facial features Pes planus Inability to walk Osteopenia Severe short stature Red urine Broad philtrum Broad face Relative macrocephaly Short palpebral fissure Hepatosplenomegaly Apraxia Neuronal loss in central nervous system Thick vermilion border Macroglossia Delayed eruption of teeth Autistic behavior Hyperextensible hand joints



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