Delayed speech and language development, and Skeletal dysplasia

Diseases related with Delayed speech and language development and Skeletal dysplasia

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


Top matches:

Low match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM MONDO ORPHANET UMLS

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Low match RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;

Related symptoms:

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


SOURCES: MONDO MESH OMIM ORPHANET UMLS

More info about RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

Low match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD Is also known as boyadjiev-jabs syndrome;boyadjiev-jabs syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM SCTID UMLS MESH MONDO ORPHANET

More info about CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

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Other less relevant matches:

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

Low match OSTEOGLOPHONIC DYSPLASIA; OGD

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Pica
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH

More info about OSTEOGLOPHONIC DYSPLASIA; OGD

Low match MUCOLIPIDOSIS IV; ML4

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv, sialolipidosis;

Related symptoms:

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


SOURCES: OMIM ORPHANET NCIT SCTID GARD ICD10 MONDO

More info about MUCOLIPIDOSIS IV; ML4

Low match FUCOSIDOSIS

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: OMIM

More info about FUCOSIDOSIS

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Related symptoms:

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


SOURCES: DOID OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Failure to thrive


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Low match VAN MALDERGEM SYNDROME 2; VMLDS2

Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013).For a discussion of genetic heterogeneity of Van Maldergem syndrome, see {601390}.

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about VAN MALDERGEM SYNDROME 2; VMLDS2

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Pica Malar flattening Failure to thrive Abnormal facial shape Hypertelorism Cryptorchidism Frontal bossing Absent speech Seizures Hearing impairment Short neck Spasticity Short metacarpal Oxycephaly Growth delay Inguinal hernia Hypospadias Macrocephaly Epicanthus Low-set ears Hernia Micrognathia Depressed nasal bridge Craniosynostosis Motor delay Hypoplasia of the corpus callosum High palate Behavioral abnormality Osteopenia Wide nasal bridge Midface retrusion Severe short stature Microcephaly

Rare Symptoms - Less than 30% cases


Esotropia Capillary hemangioma Microtia Wide anterior fontanel Hemangioma Short nose Wide nose Delayed skeletal maturation Ptosis Strabismus Platyspondyly Hypoplasia of the maxilla Large fontanelles Microdontia Sacral dimple Short palm Retinopathy Dysostosis multiplex Cerebral atrophy Oligosacchariduria Cerebellar hypoplasia Clinodactyly Neonatal hypotonia Camptodactyly Spastic tetraplegia High myopia Corneal opacity Developmental regression Coarse facial features Metaphyseal dysplasia Dystonia Splenomegaly Myopia Hyperreflexia Ataxia Agenesis of corpus callosum Abnormality of the genital system Narrow chest Protruding ear Mandibular prognathia Short fourth metatarsal Spondyloepimetaphyseal dysplasia Smooth philtrum Tented upper lip vermilion Epiphyseal dysplasia Prominent forehead Anteverted nares Feeding difficulties Small nail Micropenis Brachydactyly Downslanted palpebral fissures Ventricular septal defect Long philtrum Hyperlordosis Retinal degeneration Cataract Abnormality of the skeletal system Rod-cone dystrophy Joint laxity Sensorineural hearing impairment Increased body weight Optic atrophy Carious teeth Thin upper lip vermilion Gastroesophageal reflux Progressive microcephaly Short finger Cutaneous finger syndactyly Microretrognathia Dental crowding Tracheomalacia Spondyloepiphyseal dysplasia Febrile seizures Pterygium Anteriorly placed anus Cutaneous syndactyly Phimosis Bifid scrotum Narrow forehead Cerebral cortical atrophy Dental malocclusion Microphthalmia Hypertonia Renal hypoplasia Atrial septal defect Hydrocephalus Ventriculomegaly Mild microcephaly Short palpebral fissure Inability to walk Nevus Heterotopia Neoplasm Abnormality of the hand Central hypothyroidism Atresia of the external auditory canal Decreased testicular size Functional respiratory abnormality Single transverse palmar crease Irregular dentition Absent/hypoplastic paranasal sinuses Elevated sweat chloride Wide cranial sutures Anterior beaking of lumbar vertebrae Angiokeratoma corporis diffusum Angiokeratoma Abnormality of temperature regulation Generalized limb muscle atrophy Cervical platyspondyly Abnormality of the abdominal wall Vacuolated lymphocytes Shield chest Barrel-shaped chest Anhidrosis Coxa valga Cardiomegaly Tortuosity of conjunctival vessels Absent/hypoplastic coccyx Short clavicles Gait ataxia Tapered finger Hypermetropia Abnormal cardiac septum morphology Toe syndactyly Dolichocephaly Downturned corners of mouth Hypothyroidism Narrow mouth Anterior beaking of thoracic vertebrae Retrognathia Osteoporosis Recurrent infections Polyhydramnios Short 4th metacarpal Syndactyly Intrauterine growth retardation Anemia Alopecia Somatic mosaicism Hydronephrosis Talipes equinovarus Ectopia pupillae Astrocytoma Craniofacial hyperostosis Osteochondrosis Linear hyperpigmentation Abnormal cartilage morphology Lipomas of the central neryous system Congenital onset Hemihypertrophy Conductive hearing impairment Nevus flammeus Xanthomatosis Echolalia Telecanthus Hypohidrosis Sclerocornea Skin tags Peripheral pulmonary artery stenosis Hypoplasia of the iris Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Hemiatrophy Epibulbar dermoid Alopecia areata Pelvic kidney Neoplasm of the skeletal system Tricuspid valve prolapse Subcutaneous lipoma Subvalvular aortic stenosis Neurodevelopmental abnormality Abnormal anterior chamber morphology Abnormal aortic morphology Interrupted aortic arch Visceral angiomatosis Aplasia cutis congenita of scalp Porencephalic cyst Bone cyst Abnormal eyelid morphology Abnormality of the skull Rigidity Paralysis Dandy-Walker malformation Abnormality of the face Pulmonary arterial hypertension Intellectual disability, profound Subcutaneous nodule Coarctation of aorta Scarring Tetraplegia Hemiparesis Cerebral calcification Chorioretinitis Iris coloboma Papule Neurological speech impairment Coloboma Sporadic Aortic valve stenosis Osteolysis Eyelid coloboma Cortical dysplasia Glioma Abnormality of the eyelashes Arachnoid cyst Blepharophimosis Aplasia cutis congenita Absent septum pellucidum Talipes Aphasia Mutism Dysphasia Multiple lipomas Muscle stiffness Flat face Hamartoma Lipoma Hemiplegia Lipodystrophy Acrania Everted lower lip vermilion Progressive neurologic deterioration Narrow iliac wings Autistic behavior Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract High iliac wings Sutural cataract Hypoplasia of teeth Coxa vara Delayed closure of the anterior fontanelle Decreased skull ossification Premature loss of teeth Prominent supraorbital ridges Brittle hair Coarse hair Hyperpigmentation of the skin Thick vermilion border Short femoral neck Bifid uvula Skull asymmetry Abnormal form of the vertebral bodies Short foot Depressivity Respiratory distress Autosomal dominant inheritance Thoracic platyspondyly Distal femoral bowing Proximal femoral epiphysiolysis Femoral bowing Narrow pelvis bone Small epiphyses Lumbar scoliosis Beaking of vertebral bodies Thoracolumbar scoliosis Delayed epiphyseal ossification Slender long bone Overlapping toe Prominent nose Delayed eruption of teeth Choanal atresia Panhypopituitarism Prolactin deficiency Pituitary dwarfism Lumbar kyphosis Anterior pituitary hypoplasia Gonadotropin deficiency Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Thoracic kyphosis Thoracolumbar kyphoscoliosis Hypopituitarism Hyperextensible skin Cyanosis Growth hormone deficiency Joint hypermobility Jaundice Kyphosis Myopathy Abnormal anterior horn cell morphology Hypothalamic luteinizing hormone-releasing hormone deficiency Abnormality of skin pigmentation Cleft palate Pulmonic stenosis Thin vermilion border Joint hyperflexibility Prominent nasal bridge Sparse hair Wide mouth Pes planus Metaphyseal chondrodysplasia Blindness Congenital blindness Horseshoe kidney Underdeveloped nasal alae Short distal phalanx of finger Renal cyst Nyctalopia Intellectual disability, moderate Macrotia Limb undergrowth Short phalanx of finger Thin skin Genu recurvatum Titubation Abnormal nasal morphology Decreased light- and dark-adapted electroretinogram amplitude Aplasia/Hypoplasia of the abdominal wall musculature Developmental stagnation Motor deterioration Severe visual impairment Increased serum ferritin Dysplastic corpus callosum Palpebral edema Abnormality of abdomen morphology Gout Biparietal narrowing Aspiration Abnormal electroretinogram Opacification of the corneal stroma Esodeviation Cerebral dysmyelination Retinal dystrophy Skin rash Neurodegeneration Lumbar hyperlordosis Thick lower lip vermilion Macroglossia Polyneuropathy Dry skin Thick eyebrow Recurrent respiratory infections Hoarse cry Tics Skeletal muscle atrophy Hepatomegaly Flexion contracture Abnormality of mucopolysaccharide metabolism Abnormality of ganglioside metabolism Truncal titubation Progressive psychomotor deterioration Abnormality of retinal pigmentation Palmoplantar keratoderma Bowing of the long bones Abnormality of the clavicle Abnormality of the nasopharynx Chordee Renal phosphate wasting Cloverleaf skull Hypoplastic scapulae Broad foot Shallow orbits Hypophosphatemia Abnormal bone ossification Broad palm Increased susceptibility to fractures Failure to thrive in infancy Hypoplastic toenails Reduced number of teeth Short metatarsal Plagiocephaly Rhizomelia Nasal obstruction Broad phalanx Abnormality of the cerebral white matter Cerebellar atrophy Ranula Abnormality of the nervous system Hepatosplenomegaly EEG abnormality Photophobia Reduced visual acuity Babinski sign Gait disturbance Broad metacarpals Infantile onset Visual impairment Muscular hypotonia Nystagmus Multiple unerupted teeth Unerupted tooth Pseudoarthrosis Broad metatarsal Hip subluxation



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