Delayed speech and language development, and Hyperkeratosis

Diseases related with Delayed speech and language development and Hyperkeratosis

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


Top matches:

Low match SHAHEEN SYNDROME; SHNS

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).

SHAHEEN SYNDROME; SHNS Is also known as ;shaheen syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever


SOURCES: ORPHANET OMIM MONDO UMLS

More info about SHAHEEN SYNDROME; SHNS

Low match ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM UMLS GARD MONDO

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F Is also known as cdg if;cdgif;cdg syndrome type if; cdg-if; cdg1f; carbohydrate deficient glycoprotein syndrome type if; congenital disorder of glycosylation type 1f; congenital disorder of glycosylation type if

Related symptoms:

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


SOURCES: MESH GARD UMLS NCIT MONDO SCTID OMIM ORPHANET

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

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Other less relevant matches:

Low match MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Is also known as ;congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Cryptorchidism


SOURCES: MONDO OMIM ORPHANET UMLS

More info about MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC

Low match TYROSINEMIA, TYPE II; TYRSN2

Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).

TYROSINEMIA, TYPE II; TYRSN2 Is also known as richner-hanhart syndrome, tyrosine aminotransferase deficiency, tat deficiency, tyrosine transaminase deficiency, keratosis palmoplantaris with corneal dystrophy, oregon type tyrosinemia, tyrosinosis, oculocutaneous type;keratosis palmoplantaris-corneal dystrophy syndrome; oculocutaneous tyrosinemia; richner-hanhart syndrome; tyrosinemia due to tat deficiency; tyrosinemia due to tyrosine aminotransferase deficiency; tyrosinemia type ii

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • Microcephaly


SOURCES: NCIT DOID MONDO OMIM GARD SCTID ORPHANET

More info about TYROSINEMIA, TYPE II; TYRSN2

Low match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • High palate


SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

More info about LIPOID PROTEINOSIS OF URBACH AND WIETHE

Low match NOONAN SYNDROME 6; NS6

Related symptoms:

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


SOURCES: MESH GARD MONDO DOID OMIM UMLS

More info about NOONAN SYNDROME 6; NS6

Low match NOONAN SYNDROME 8; NS8

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Scoliosis


SOURCES: DOID MONDO OMIM UMLS

More info about NOONAN SYNDROME 8; NS8

Low match 6Q TERMINAL DELETION SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q TERMINAL DELETION SYNDROME

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

gene led to a 96 to 98% reduction in DK activity.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS MESH OMIM MONDO SCTID GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Pica Failure to thrive Myopathy Growth delay Cognitive impairment Cryptorchidism Feeding difficulties Scoliosis Dry skin Muscular hypotonia Absent speech Strabismus Microcephaly Congenital onset Hypertelorism Short stature Macrocephaly Cardiomyopathy

Rare Symptoms - Less than 30% cases


Hypsarrhythmia Ptosis Downslanted palpebral fissures High palate Recurrent respiratory infections Joint laxity Epicanthus Pulmonic stenosis Intellectual disability, mild Papule Abnormality of the skin White papule Alopecia Short neck Curly hair Oxycephaly Relative macrocephaly Ichthyosis Hypertrophic cardiomyopathy Leukemia Webbed neck Severe muscular hypotonia Low-set ears Hypohidrosis Dysphagia Ataxia Hearing impairment Motor delay Flexion contracture Hyperhidrosis Postnatal microcephaly Autoimmunity Ventricular septal defect Edema Inflammatory abnormality of the skin Atrial septal defect Patent ductus arteriosus Polyhydramnios Erythema Sparse and thin eyebrow Abnormal cardiac septum morphology Autosomal dominant inheritance Low posterior hairline Ventricular hypertrophy Abnormality of the cardiovascular system Hyperpigmentation of the skin Recurrent pneumonia Left ventricular hypertrophy Hyperextensible skin Systemic lupus erythematosus Sparse eyelashes Long eyebrows Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Abnormality of cardiovascular system morphology Myocarditis Abnormal heart morphology Myopia High forehead Epileptic spasms Adactyly Broad forehead Abnormality of coagulation Juvenile myelomonocytic leukemia Hypoketotic hypoglycemia Lipoatrophy Growth hormone deficiency Ketotic hypoglycemia Aspiration Bilateral ptosis Pleural effusion Broad neck Asymmetry of the thorax Tetraplegia Arrhythmia Abnormality of the sternum Broad philtrum Low anterior hairline Gynecomastia Heterotopia Plagiocephaly Phimosis Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Hypoglycemia Dilated cardiomyopathy Colpocephaly Elevated hepatic transaminase Cerebral cortical atrophy Talipes calcaneovalgus Periventricular gray matter heterotopia Aplasia/Hypoplasia of the ribs Abnormality of the cerebral cortex Dilatation Congestive heart failure Hepatomegaly Myalgia Short palpebral fissure Acute lymphoblastic leukemia Clinodactyly Splenomegaly Chylothorax Palmoplantar cutis laxa Micrognathia Abnormal facial shape Hypoplasia of the corpus callosum Hypospadias Death in infancy Obesity Cerebellar hypoplasia Prominent forehead Wide intermamillary distance Gait ataxia Low-set, posteriorly rotated ears Dolichocephaly Abnormality of the cerebral white matter Polymicrogyria Hypermetropia Dysmetria Highly arched eyebrow High, narrow palate Thick vermilion border Graves disease Thickened skin Depressed nasal bridge Limb muscle weakness Erythroderma Scaling skin Muscle weakness Respiratory insufficiency Pectus excavatum Respiratory failure Gastroesophageal reflux Neonatal hypotonia Muscular dystrophy Delayed puberty Respiratory insufficiency due to muscle weakness Abnormality of vision EMG: myopathic abnormalities Poor head control Increased variability in muscle fiber diameter Congenital muscular dystrophy Congenital contracture Mildly elevated creatine phosphokinase Multiple joint contractures Spinal rigidity Centrally nucleated skeletal muscle fibers Neck muscle weakness Weak cry Abnormality of the coagulation cascade Severe global developmental delay Follicular hyperkeratosis Hypotension Fever Carious teeth Ectodermal dysplasia Hepatitis Hypoplasia of dental enamel Palmoplantar hyperkeratosis Anhidrosis Spasticity Gait disturbance Renal insufficiency Sensory impairment Nasal speech Abnormality of the eye Adrenal insufficiency Orthostatic hypotension Achalasia Alacrima Anisocoria Visual impairment Optic atrophy Hypertonia Cerebral atrophy Severe short stature Apnea Overweight Generalized joint laxity Sensorineural hearing impairment Fragile skin Acrania Cerebral calcification Scarring Thick lower lip vermilion Memory impairment Abnormal blistering of the skin Subcutaneous nodule Hallucinations Hoarse voice Acne Delusions Aggressive behavior Pustule Alopecia of scalp Microglossia Verrucae Nasal polyposis Abnormal oral mucosa morphology Paranoia Patchy alopecia Abnormality of the gingiva Tongue nodules Bilateral intracranial calcifications Carcinoma Dystonia Pes valgus Ranula Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Pain Tremor Malar flattening Behavioral abnormality Acidosis Visual loss Photophobia Neurological speech impairment Corneal opacity Tics Hypoplasia of the maxilla Palmoplantar keratoderma Infertility Abnormality of the nail Keratitis Male infertility Corneal ulceration Hypertyrosinemia Abnormality of amino acid metabolism 4-Hydroxyphenylpyruvic aciduria Herpetiform corneal ulceration Abnormal isoelectric focusing of serum transferrin



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