Delayed speech and language development, and Nail dystrophy

Diseases related with Delayed speech and language development and Nail dystrophy

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


Top matches:

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO DOID OMIM

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Medium match COFFIN-SIRIS SYNDROME 5; CSS5

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET UMLS OMIM MONDO DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment


SOURCES: MONDO OMIM UMLS DOID

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Medium match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

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


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as door syndrome, digitorenocerebral syndrome, drc syndrome, brachydactyly due to absence of distal phalanges, eronen syndrome

Related symptoms:

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


SOURCES: MONDO OMIM GARD MESH

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as trichothiodystrophy, photosensitive;ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, tay syndrome, trichothiodystrophy with congenital ichthyosis;ichthyosis, congenital, with trichothiodystrophy, pibids syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM MONDO ORPHANET

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM UMLS MONDO DOID

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: DOID UMLS OMIM MONDO

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Low match REVESZ SYNDROME

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as dyskeratosis congenita, autosomal dominant 5;dkca5, exudative retinopathy with bone marrow failure;dyskeratosis congenita with bilateral exudative retinopathy; retinopathy-anemia-central nervous system anomalies syndrome; revesz-debuse syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: MONDO ORPHANET OMIM DOID UMLS MESH SCTID GARD

More info about REVESZ SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Cerebellar hypoplasia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Nail dysplasia Pica Bone marrow hypocellularity Seizures Oral leukoplakia Anemia Small nail Ataxia Wide mouth Depressed nasal bridge Aplastic anemia Dry skin Feeding difficulties Fine hair Hearing impairment Pancytopenia Sparse hair Absent speech Alopecia

Rare Symptoms - Less than 30% cases


Cerebral atrophy Protruding ear High forehead Malar flattening Downturned corners of mouth Short foot Retrognathia Pulmonary fibrosis Cerebral calcification High palate Epicanthus Reticulated skin pigmentation Esophageal stricture Thrombocytopenia Nystagmus Retinopathy Decreased antibody level in blood Hyperpigmentation of the skin Cryptorchidism Small for gestational age Bilateral sensorineural hearing impairment Leukopenia Esophageal stenosis Midface retrusion Coarse facial features Anteverted nares Abnormal heart morphology Short distal phalanx of finger Cataract Abnormality of skin pigmentation Carious teeth Recurrent infections Hypertonia Scoliosis Dandy-Walker malformation Generalized hypotonia Prominent nasal tip Brachydactyly Peripheral neuropathy Areflexia Tics Microphthalmia Low-set ears Profound sensorineural hearing impairment Sensorineural hearing impairment Hypertelorism Pancreatic aplasia Strabismus Cognitive impairment Muscular hypotonia Cystic renal dysplasia Flexion contracture Hypoplasia of the iris Severe sensorineural hearing impairment Arrhythmia Recurrent respiratory infections Respiratory tract infection Abnormality of the nervous system Bulbous nose Everted lower lip vermilion Abnormality of the skin Prominent nose Hyporeflexia Respiratory distress Renal agenesis High myopia Myopia Hypsarrhythmia Short phalanx of finger Long philtrum Abnormality of the fingernails Triphalangeal thumb Blindness Optic atrophy Wide nasal bridge Anonychia Infantile spasms Progressive Neonatal hypotonia Dysphonia Babinski sign Immunodeficiency Abnormality of hair texture Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Corneal neovascularization Titubation Jerky ocular pursuit movements Lack of subcutaneous fatty tissue Abnormality of the dentition Carcinoma Cerebellar atrophy Diarrhea Depressivity Postnatal growth retardation Pili torti Lymphopenia Colitis Motor delay Abnormality of metabolism/homeostasis Sporadic Progressive neurologic deterioration Purpura Megalocornea Nail pits Ridged fingernail Leukocoria Exudative retinopathy Short telomere length Fragile nails Woolly hair Pneumonia Brittle hair Hypogonadism Photophobia Ichthyosis Malabsorption Microcornea Eczema Cutaneous photosensitivity Asthma Abnormality of the face Chronic diarrhea Increased bone mineral density Macular degeneration Aplasia of the vagina Abnormality of the thorax Progeroid facial appearance Spastic diplegia Squamous cell carcinoma Erythroderma Decreased fertility Basal cell carcinoma Freckling Intestinal obstruction Nuclear cataract Hyperactive deep tendon reflexes IgG deficiency Congenital ichthyosiform erythroderma Keratoconjunctivitis sicca Alopecia of scalp Ureteral atresia Short palm Abnormality of upper lip Wide intermamillary distance Upslanted palpebral fissure Micropenis Macrotia Pes planus Aggressive behavior Deeply set eye Synophrys Thin vermilion border Leukemia Hirsutism Poor speech Low posterior hairline Edema Hypopigmentation of the skin Generalized hirsutism Prominent supraorbital ridges Increased body weight Broad hallux Acute myeloid leukemia Broad neck Myeloid leukemia Echolalia Broad face Spotty hypopigmentation X-linked recessive inheritance Short neck Almond-shaped palpebral fissure Short philtrum Failure to thrive Infantile onset Constipation Intellectual disability, profound CNS hypomyelination Ptosis Abnormal facial shape Hypoplasia of the corpus callosum Atrial septal defect Abnormality of cardiovascular system morphology Thin upper lip vermilion Thick eyebrow Macrocephaly Arachnodactyly Wide nose Thick lower lip vermilion Sparse scalp hair Low anterior hairline Long eyelashes Sandal gap Hypoplastic toenails Slender finger Dystrophic toenail Thick nasal alae Abnormal corpus callosum morphology Abnormal hair whorl Hypointensity of cerebral white matter on MRI Hypoplasia of the bladder Focal seizures with impairment of consciousness or awareness Renal hypoplasia Oligohydramnios Stage 5 chronic kidney disease Large fontanelles Sparse and thin eyebrow Hypertrichosis Recurrent urinary tract infections Horizontal nystagmus Multicystic kidney dysplasia Renal hypoplasia/aplasia Schizophrenia Language impairment Hypermetropia Unilateral renal agenesis Long fingers Shawl scrotum Ovarian cyst Upper limb undergrowth Aplasia of the uterus Hyperconvex nail Long toe Ureterocele Urethral stenosis Subcortical cerebral atrophy Highly arched eyebrow Facial asymmetry Regional abnormality of skin Interstitial pulmonary abnormality Hypertension Osteoporosis Osteopenia Acrania Gastrointestinal hemorrhage Lymphoma Abnormal lung morphology Phimosis Portal hypertension Abnormal intestine morphology Premature graying of hair Intestinal bleeding Hydronephrosis Aseptic necrosis Epiphora Hodgkin lymphoma Pulmonary hemorrhage Micrognathia Downslanted palpebral fissures Frontal bossing Renal insufficiency Diabetes mellitus Mandibular prognathia Elevated hepatic transaminase Autism Fine, reticulate skin pigmentation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Situs inversus totalis, related diseases and genetic alterations Immunodeficiency and Splenomegaly, related diseases and genetic alterations Abnormal facial shape and Spina bifida, related diseases and genetic alterations Abnormal facial shape and Abnormal bleeding, related diseases and genetic alterations Anemia and Hypodontia, related diseases and genetic alterations Seizures and Bradykinesia, related diseases and genetic alterations