Delayed speech and language development, and Epidermal acanthosis

Diseases related with Delayed speech and language development and Epidermal acanthosis

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


Top matches:

Medium match INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES Is also known as somatomedin, end-organ insensitivity to, somatomedin-c, resistance to, igf-i resistance;resistance to igf-1

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS GARD SCTID

More info about INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: ICD10 NCIT DOID MESH GARD MONDO OMIM

More info about ACHONDROPLASIA; ACH

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS MONDO OMIM

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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Other less relevant matches:

Medium match COSTELLO SYNDROME; CSTLO

Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood (Kerr et al., 2006).In patients with a clinical diagnosis of Costello syndrome, Zenker et al. (2007) identified mutations in the KRAS gene, but noted that these patients may later develop features of CFC syndrome. In either case, the findings underscore the central role of Ras in the pathogenesis of these phenotypically related disorders (Zenker et al., 2007). However, Kerr et al. (2008) commented that the diagnosis of Costello syndrome should only be used to refer to patients with mutations in the HRAS gene.

COSTELLO SYNDROME; CSTLO Is also known as faciocutaneoskeletal syndrome, fcs syndrome;fcs syndrome; faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: DOID OMIM MONDO GARD SCTID ORPHANET MESH UMLS NCIT

More info about COSTELLO SYNDROME; CSTLO

Medium match NEVUS, EPIDERMAL

Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994).A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, {113800}), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994).Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015).Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012).Also see giant pigmented hairy nevus (OMIM ) and malignant melanoma (OMIM ).

NEVUS, EPIDERMAL Is also known as nevus, keratinocytic, nonepidermolytic

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Nevus
  • Hyperkeratosis
  • Palmoplantar keratoderma


SOURCES: OMIM NCIT MONDO

More info about NEVUS, EPIDERMAL

Medium match PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES

Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES Is also known as rabson-mendenhall syndrome, mendenhall syndrome;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Neoplasm


SOURCES: NCIT UMLS OMIM MONDO SCTID ORPHANET GARD

More info about PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES

Medium match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Medium match ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

gene; 4p16.3).

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN Is also known as saddan dysplasia;saddan

Related symptoms:

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


SOURCES: UMLS OMIM SCTID ORPHANET

More info about ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy, lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: DOID ORPHANET OMIM GARD UMLS MESH MONDO

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match THANATOPHORIC DYSPLASIA, TYPE I; TD1

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia;td, thanatophoric dwarfism, platyspondylic lethal skeletal dysplasia, san diego type, lethal short-limbed platyspondylic dwarfism, san diego type;td1; thanatophoric dwarfism type 1

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: MONDO OMIM NCIT UMLS ORPHANET GARD

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Acanthosis nigricans Very Common - Between 80% and 100% cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Severe short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Generalized hypotonia Hearing impairment Neoplasm Motor delay Seizures Abnormality of the skeletal system Depressed nasal bridge Delayed skeletal maturation Frontal bossing Ventriculomegaly Autosomal recessive inheritance Hydrocephalus Abnormal facial shape Intellectual disability Megalencephaly Macrocephaly Central apnea Lipodystrophy Small face Wide anterior fontanel Sparse hair Rigidity Osteoporosis Flexion contracture Hypertension Hyperkeratosis Gastroesophageal reflux Nevus Pain Skeletal dysplasia Brachydactyly Midface retrusion Abnormality of the dentition Insulin resistance Pica Obesity Curly hair Strabismus Microcephaly Diabetes mellitus Atrial septal defect Hypoplasia of the corpus callosum Intrauterine growth retardation Postnatal growth retardation Failure to thrive Cognitive impairment Small for gestational age

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Overgrowth Carcinoma Abnormal lung morphology Rhizomelia Myopathy Papilloma Cardiomyopathy Inguinal hernia Otitis media Edema Hepatomegaly Lumbar hyperlordosis Hernia Feeding difficulties Sleep disturbance Tachycardia Sepsis High palate Sleep apnea Flared metaphysis Tibial bowing Coarse facial features Platyspondyly Micromelia Hypopnea Small foramen magnum Arrhythmia Palmoplantar keratoderma Polyhydramnios Femoral bowing Kyphosis Cloverleaf skull Respiratory insufficiency Enlarged cerebellum Obstructive sleep apnea Cryptorchidism Respiratory failure Dysphagia Micrognathia Neuroblastoma Proptosis Hyperhidrosis Hirsutism Sensorineural hearing impairment Hypoglycemia Joint laxity Disproportionate short-limb short stature Infantile muscular hypotonia Apnea Thickened skin Recurrent infections Abnormality of the nervous system Synophrys Protuberant abdomen Hyperlordosis Reduced subcutaneous adipose tissue Truncal obesity Abnormality of the fingernails Atrial fibrillation Cutis laxa Accelerated skeletal maturation Apraxia Bilateral cryptorchidism Redundant skin Pyloric stenosis Lymphoma Broad nasal tip Webbed neck Triangular face Fasting hypoglycemia Woolly hair Anemia Malar flattening Mandibular prognathia Hypogonadism Limb undergrowth Ventricular septal defect Clinodactyly Long philtrum Coma Hyperinsulinemia Hyperglycemia Postprandial hyperglycemia Acidosis Female pseudohermaphroditism Diabetic ketoacidosis Pruritus Abnormality of the abdominal wall Proteinuria Onychauxis Advanced eruption of teeth Alopecia Dry skin Corneal opacity Precocious puberty Long penis Abnormality of the upper urinary tract Polycystic ovaries Ranula Thick nail Ketoacidosis Insulin-resistant diabetes mellitus Generalized hirsutism Hypertrichosis Coarse hair Abdominal distention Erythema Ovarian neoplasm Prematurely aged appearance Abnormality of the thyroid gland Clitoral hypertrophy Growth hormone excess Neonatal sepsis Numerous nevi Asymmetric septal hypertrophy Triangular mouth Deep plantar creases Large face Hypoplasia of teeth Fetal distress Bronchomalacia Schwannoma Rhabdomyosarcoma Limited elbow movement Pneumothorax Hyperextensibility of the finger joints Redundant neck skin Duodenal ulcer Concave nail Deep palmar crease Fragile nails Verrucae Labial hypoplasia Lack of skin elasticity Sudden death Large earlobe Progeroid facial appearance Achilles tendon contracture Barrel-shaped chest Arnold-Chiari type I malformation Thin nail Capillary malformation Melanocytic nevus Macrocephaly at birth Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Multifocal atrial tachycardia Myofiber disarray Alveolar rhabdomyosarcoma Loose anagen hair Cardiomyocyte hypertrophy Vitreomacular adhesion Bladder carcinoma Acanthoma Ganglioneuroblastoma Deep-set nails Melena Body odor Frontal hirsutism Vestibular Schwannoma Embryonal rhabdomyosarcoma Ichthyosis Choroid plexus papilloma Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Shyness Hematemesis Bladder neoplasm Ulnar deviation of the wrist Carious teeth Foot pain Nail dystrophy Mildly elevated creatine phosphokinase Prominent umbilicus Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Atlantoaxial dislocation Generalized lipodystrophy Supraventricular tachycardia Ileus Spinal rigidity Prolonged QT interval IgA deficiency Ventricular fibrillation Increased variability in muscle fiber diameter Muscular hypotonia Muscle stiffness Cutis marmorata Skeletal muscle hypertrophy Ventricular tachycardia Exercise intolerance Bradycardia Recurrent bacterial infections Trophic changes related to pain Sudden cardiac death Hypertriglyceridemia Generalized muscle weakness Hepatic steatosis Muscular dystrophy Distal muscle weakness Muscle mounding Respiratory distress Neonatal hypotonia Abnormality of neuronal migration Small abnormally formed scapulae Lethal short-limbed short stature Abnormality of the sacroiliac joint Short sacroiliac notch Severe platyspondyly Increased nuchal translucency Craniofacial dysostosis Excessive wrinkled skin Lethal skeletal dysplasia Short femur Hypoplastic ilia Aplasia/Hypoplasia of the lungs Neonatal death Metaphyseal irregularity Patent ductus arteriosus Radioulnar synostosis Short long bone Short ribs Heterotopia Bowing of the long bones Split hand Intellectual disability, profound Decreased fetal movement Abnormality of the metaphysis Polymicrogyria Flat face Abnormality of the kidney Narrow chest Joint stiffness Myalgia Hepatosplenomegaly Papule Plantar hyperkeratosis Abnormal cornea morphology Abnormal oral mucosa morphology Trichorrhexis nodosa Alopecia universalis Abnormality of the tongue Hidrotic ectodermal dysplasia Amniotic constriction ring Hypergranulosis Generalized osteoporosis Oral leukoplakia Ankylosis Pili torti Parakeratosis Neoplasm of the lung Palmoplantar hyperhidrosis Anhidrosis Squamous cell carcinoma Melanoma Mutism Neoplasm of the skin Inflammatory abnormality of the skin Osteolysis Opacification of the corneal stroma Skin ulcer Fine hair Hypotrichosis Ectodermal dysplasia Nail dysplasia Hypodontia Subungual hyperkeratosis Abnormality of the gingiva Proximal muscle weakness Thoracic hypoplasia Osteopenia Elevated hepatic transaminase Constipation Elevated serum creatine phosphokinase Splenomegaly Infantile onset Muscle weakness Scoliosis Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Abnormality of the clavicle Mesomelia Exotropia Ainhum Generalized seizures Pulmonary arterial hypertension High myopia Brain atrophy Severe global developmental delay Craniosynostosis Congestive heart failure Intellectual disability, severe Skin fissure Anal fissure Circumungual hyperkeratosis Agenesis of premolar Rhabdomyolysis Autoamputation Soft skin Low-set, posteriorly rotated ears Heart murmur Myelitis Thoracolumbar kyphosis Neonatal short-limb short stature Multiple epiphyseal dysplasia Cor pulmonale Hypoxemia Myelopathy Communicating hydrocephalus Generalized joint laxity Dysuria Upper airway obstruction Spinal cord compression Myeloid leukemia Central sleep apnea Osteopetrosis Spinal canal stenosis Disproportionate short stature Hip contracture Back pain Bowel incontinence Limited elbow extension Short femoral neck Chronic otitis media Spondyloepiphyseal dysplasia Anal stenosis Tinnitus Chronic myelogenous leukemia Cervical myelopathy Paraparesis Tremor Attention deficit hyperactivity disorder Prominent nasal bridge Short philtrum Retinopathy Abnormal pyramidal sign Hypothyroidism High forehead Micropenis Immunodeficiency Babinski sign Pes cavus Thrombocytopenia Gait disturbance Obstructive lung disease Dysarthria Cataract Nystagmus Ataxia Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Enlarged tonsils Iritis Cervical cord compression Genu varum Epiphyseal dysplasia Dilated cardiomyopathy Everted lower lip vermilion Patent foramen ovale Sandal gap Decreased body weight Inability to walk Sparse scalp hair Type II diabetes mellitus Blue sclerae Wide intermamillary distance Small hand Highly arched eyebrow Delayed eruption of teeth Short distal phalanx of finger Radial deviation of finger Short palm Thin vermilion border Smooth philtrum Anxiety Thin upper lip vermilion Muscular hypotonia of the trunk Narrow mouth Upslanted palpebral fissure Congenital onset Pectus excavatum Hypertonia Wide nasal bridge Finger clinodactyly Delayed cranial suture closure Recurrent urinary tract infections Hyperreflexia Recurrent otitis media Tetraparesis Confusion Oral cleft Scarring Leukemia Acrania Cleft lip Clonus Weight loss Conductive hearing impairment Arthralgia Increased serum insulin-like growth factor 1 Pterygium Hypoplastic facial bones Burkitt lymphoma Prominent scalp veins Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Abnormality of the rib cage Maternal diabetes Severe intrauterine growth retardation Severe failure to thrive Agitation Deeply set eye Hypermetropia Severe postnatal growth retardation Joint hypermobility Ascites Eczema Tetraplegia Hematuria Full cheeks Premature birth Macroglossia Postural instability Thick vermilion border Abnormality of the skin Wide nose Pulmonic stenosis Mitral valve prolapse Delayed puberty Joint hyperflexibility Arthrogryposis multiplex congenita Irritability Pectus carinatum Wide mouth Hypertrophic cardiomyopathy Sporadic Feeding difficulties in infancy Intellectual disability, moderate Abnormal heart morphology Abnormality of the genital system Thick lower lip vermilion Asthma Absent speech Arnold-Chiari malformation Thickened nuchal skin fold Central hypotonia Syringomyelia Microscopic hematuria Tracheomalacia Keratoconus Generalized hyperpigmentation Ulnar deviation of finger Abnormality of the vasculature Failure to thrive in infancy Hypoplastic toenails Relative macrocephaly Poor suck Abnormality of the hair Hyperextensible skin Laryngomalacia Sarcoma Hydrops fetalis Hoarse voice Abnormal dermatoglyphics Pointed chin Narrow palate Abnormality of dental enamel Hyperpigmentation of the skin Lymphedema Hypoplasia of dental enamel Oxycephaly Posteriorly rotated ears Long face Lymphopenia Long nose Unilateral renal agenesis Ectopic kidney Sensory axonal neuropathy Broad-based gait Short chin Postural tremor Dysdiadochokinesis Goiter Bone marrow hypocellularity Hypergonadotropic hypogonadism Cutaneous photosensitivity Slurred speech Sloping forehead Pigmentary retinopathy Bradykinesia Hypotelorism Renal hypoplasia Renal agenesis Convex nasal ridge Decreased testicular size Polyneuropathy Falls Sensory neuropathy Dysmetria Cortical gyral simplification High pitched voice Cerebral cortical atrophy Ptosis Vomiting Cerebral atrophy Abnormality of cardiovascular system morphology Intellectual disability, mild Renal insufficiency Short nose Talipes equinovarus Anteverted nares Short neck Downslanted palpebral fissures Epicanthus Low-set ears Hypertelorism Cerebellar vermis atrophy Gastrointestinal stroma tumor Thyroid nodule Long neck Multinodular goiter Nodular goiter Chronic lung disease Low hanging columella Shuffling gait Abnormality of lipid metabolism Misalignment of teeth Glioma Increased circulating gonadotropin level Wide-cupped costochondral junctions


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