Delayed speech and language development, and Pectus carinatum

Diseases related with Delayed speech and language development and Pectus carinatum

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


Top matches:

Medium match SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012).

SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 Is also known as ;spg53

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: DOID OMIM ORPHANET UMLS MONDO

More info about SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

Medium match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET MONDO

More info about YOU-HOOVER-FONG SYNDROME; YHFS

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 Is also known as ;

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET DOID MONDO

More info about LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10

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Other less relevant matches:

Medium match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Motor delay


SOURCES: ORPHANET

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MONDO UMLS DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Medium match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as noonan-neurofibromatosis syndrome, neurofibromatosis with noonan phenotype

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Scoliosis


SOURCES: OMIM ORPHANET

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Medium match HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

HAREL-YOON SYNDROME; HAYOS Is also known as ;harel-yoon syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: ORPHANET OMIM MONDO UMLS

More info about HAREL-YOON SYNDROME; HAYOS

Medium 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

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly 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 Pectus carinatum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Autosomal recessive inheritance

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Nystagmus Abnormal facial shape Hearing impairment Failure to thrive Spasticity Constipation Low-set ears Developmental regression Joint laxity Short nose Abnormality of the skeletal system Micrognathia Malar flattening Muscular hypotonia of the trunk Strabismus Hyperactivity Gastroesophageal reflux Anxiety Hypertelorism Optic atrophy Cryptorchidism Ataxia Hypertonia Motor delay

Rare Symptoms - Less than 30% cases


Muscular hypotonia Progressive Smooth philtrum Oxycephaly Macrocephaly Triangular face Thick vermilion border Depressed nasal bridge Postnatal microcephaly Inability to walk Joint hyperflexibility Myopia Deeply set eye Frontal bossing Autistic behavior Aggressive behavior Short philtrum Attention deficit hyperactivity disorder Wide mouth Pes planus Autism Gait ataxia Gait disturbance Epicanthus Upslanted palpebral fissure Short stature Mandibular prognathia Milia Cerebellar atrophy Autosomal dominant inheritance Visual impairment Kyphoscoliosis Anteverted nares Skeletal muscle atrophy Downslanted palpebral fissures Hyperreflexia Plexiform neurofibroma Optic nerve hypoplasia Optic nerve glioma Axillary freckling Abnormality of mitochondrial metabolism Prominent nasolabial fold Broad neck Lisch nodules Secundum atrial septal defect Growth delay Absence seizures Acute lymphoblastic leukemia Intellectual disability, mild Neurofibromas Hernia Inguinal freckling Esotropia Superior pectus carinatum Peripheral neuropathy Hypertrophic cardiomyopathy Delayed skeletal maturation Congenital cataract Delayed puberty Osteoporosis Cardiomyopathy Infantile onset Myopathy Pectus excavatum of inferior sternum Distal amyotrophy Long face Peripheral axonal neuropathy Aciduria Increased serum lactate High forehead Hip dysplasia Cataract Abnormality of the foot Hypoplasia of the maxilla Severe short stature Macrotia Periodontitis Premature skin wrinkling Hyperextensibility of the finger joints Biconcave vertebral bodies Abnormal bone ossification Pseudoepiphyses Stooped posture Flexion contracture Edema Brachycephaly Prominent forehead Thin upper lip vermilion Vertebral compression fractures Neonatal hypotonia Abnormal pyramidal sign Postnatal growth retardation Broad forehead Severe global developmental delay Abnormality of the cerebral white matter Neurodegeneration Spastic tetraplegia Tetraparesis Spastic tetraparesis Decreased motor nerve conduction velocity Poor eye contact Beaking of vertebral bodies Progeroid facial appearance Osteopenia Thin skin EEG abnormality Abnormality of the eye Camptodactyly Hip dislocation Platyspondyly Talipes Microcornea Fibroma Recurrent fractures Dental malocclusion Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Protuberant abdomen Bowing of the long bones Congenital hip dislocation Wormian bones Cutis laxa Abnormality of vision Redundant skin Hyperextensible skin Abnormality of the outer ear Tibial bowing Femoral bowing Prematurely aged appearance Irregular vertebral endplates Freckling Muscle weakness Cafe-au-lait spot CNS hypomyelination Spastic paraplegia Abnormality of the pinna Thin vermilion border Bulbous nose Arachnodactyly Brain atrophy Narrow forehead Progressive microcephaly Leukodystrophy Mutism Babinski sign Overfolded helix Global brain atrophy Long toe Difficulty walking Abnormality of the genital system Clonus Dystonia Lumbar hyperlordosis Dental crowding Mitral regurgitation Cerebral cortical atrophy Paraplegia Stereotypy Toe syndactyly Cleft palate Abnormality of the auditory canal Brachydactyly Pectus excavatum Syndactyly Congenital onset Hyperreflexia in upper limbs Clinodactyly Impaired proprioception Abnormality of movement Long philtrum Chorea Blue sclerae Cortical visual impairment Rotary nystagmus Ankyloglossia Limb dystonia Cortical dysplasia Hypoplasia of the corpus callosum Impaired vibratory sensation Hypertrichosis Exotropia Narrow palate Cubitus valgus Short neck Facial hypotonia Chronic constipation Lumbar scoliosis Asymmetry of the ears Pica Ptosis Upper limb hypertonia Nevus Tics Atrial septal defect Delayed myelination Midface retrusion Posteriorly rotated ears Telecanthus Pulmonic stenosis Leukemia Webbed neck Wide intermamillary distance Specific learning disability Low posterior hairline Relative macrocephaly Open mouth Downturned corners of mouth 2-3 toe syndactyly Ventriculomegaly Vertebral fusion Self-injurious behavior Hyperplasia of the maxilla Thoracic kyphoscoliosis Butterfly vertebrae Abnormality of brain morphology Exaggerated median tongue furrow Kyphosis High palate Hyperlordosis Synophrys Cognitive impairment Underdeveloped nasal alae Abnormal cerebellum morphology Hypotelorism Thick lower lip vermilion Short palpebral fissure X-linked dominant inheritance Obsessive-compulsive behavior Sensorineural hearing impairment Prominent nasal bridge Slender nose



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