Delayed speech and language development, and Dolichocephaly

Diseases related with Delayed speech and language development and Dolichocephaly

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Medium match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment


SOURCES: OMIM UMLS MONDO MESH GARD

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: UMLS MONDO OMIM DOID

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET DOID OMIM MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

Medium 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

Medium match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001).

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Is also known as polysyndactyly with peculiar skull shape;gcps

Related symptoms:

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


SOURCES: NCIT ORPHANET UMLS OMIM DOID MONDO MESH GARD SCTID

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS

Medium match PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

PEROXISOME BIOGENESIS DISORDER 1B; PBD1B Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about PEROXISOME BIOGENESIS DISORDER 1B; PBD1B

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

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


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Medium match WIEDEMANN-STEINER SYNDROME; WDSTS

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME; WDSTS Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay;hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: GARD ORPHANET MONDO UMLS MESH OMIM

More info about WIEDEMANN-STEINER SYNDROME; WDSTS

Medium 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

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Wide nasal bridge Scoliosis Pica Strabismus Autosomal recessive inheritance Macrocephaly Epicanthus High forehead Oxycephaly Mandibular prognathia Absent speech Telecanthus Hypermetropia Visual impairment Clinodactyly Hypospadias Intellectual disability, mild Failure to thrive Autosomal dominant inheritance Neonatal hypotonia Nystagmus Cerebellar hypoplasia Prominent forehead Hydrocephalus Thin upper lip vermilion Growth delay Behavioral abnormality Muscular hypotonia Aggressive behavior Optic atrophy Myopia Downslanted palpebral fissures Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Dilatation Broad-based gait Cataract Skeletal muscle atrophy Rod-cone dystrophy Bilateral ptosis Esotropia Short finger Anxiety Facial asymmetry Osteoporosis Congenital cataract Brachycephaly Apnea Pectus excavatum Postnatal growth retardation Abnormality of the cerebral white matter Gait ataxia Cryptorchidism Cutaneous syndactyly Accelerated skeletal maturation Hirsutism Toe syndactyly Hip dislocation Agenesis of corpus callosum Short stature Inguinal hernia Tics Aplasia/Hypoplasia of the ribs Polymicrogyria Broad philtrum Narrow mouth Hearing impairment Ataxia Gastroesophageal reflux Plagiocephaly Short palpebral fissure Tapered finger Highly arched eyebrow Syndactyly Motor delay Short nose Smooth philtrum Obesity Intellectual disability, moderate Short philtrum Synophrys Joint laxity Hyperactivity Long face Brain atrophy Arrhythmia Scaphocephaly Cognitive impairment Wide nose Prominent nose Spasticity Pointed chin Unsteady gait Thick eyebrow Ptosis High palate Hypsarrhythmia Progressive microcephaly Feeding difficulties Broad forehead Long eyelashes Ventriculomegaly Edema Hypoplasia of the corpus callosum Respiratory insufficiency Febrile seizures Generalized amyotrophy High myopia Preauricular skin tag EMG abnormality Multiple joint contractures Dental crowding Congenital hip dislocation Increased variability in muscle fiber diameter Knee flexion contracture Bradycardia Hemivertebrae Decreased testicular size Aplasia/Hypoplasia of the corpus callosum Cortical dysplasia Cephalocele Lissencephaly Microretrognathia Holoprosencephaly Mask-like facies Congenital muscular dystrophy Skeletal muscle hypertrophy Hypoplasia of the brainstem Calf muscle hypertrophy Epiphyseal dysplasia Muscular dystrophy Pachygyria Areflexia Muscle weakness Milia Myopathy Flexion contracture Mild microcephaly Infantile onset Gait disturbance Intellectual disability, severe Atrial septal defect Microphthalmia Respiratory distress Elevated serum creatine phosphokinase Glaucoma Encephalocele EEG abnormality Rigidity Camptodactyly of finger Abnormality of the pinna Arthrogryposis multiplex congenita Atrophy/Degeneration affecting the brainstem Dilated cardiomyopathy Pulmonic stenosis Retinal detachment Abnormal cerebellum morphology Generalized muscle weakness Cerebellar vermis hypoplasia Spondyloepiphyseal dysplasia Spinal rigidity Type II lissencephaly Transposition of the great arteries Anteverted ears Blepharophimosis Neurological speech impairment Severe global developmental delay Elbow hypertrichosis Thin vermilion border Flat face Small forehead Round face Congenital, generalized hypertrichosis Low frustration tolerance Renal atrophy Growth hormone deficiency Asymmetry of the thorax Psychomotor deterioration Macrotia Hypertrichosis Short toe Generalized hirsutism Rhizomelia Stereotypy Sacral dimple Abnormality of the hand Narrow palpebral fissure Finger clinodactyly Short middle phalanx of finger Delayed gross motor development Narrow nose Abnormality of the elbow Short attention span Hyperextensibility at elbow Dilatation of renal calices Single transverse palmar crease Lobar holoprosencephaly Anencephaly Weak cry Retinal dysplasia Ankle contracture Cerebellar cyst Buphthalmos Cerebellar dysplasia Abnormal corpus callosum morphology Auricular tag Abnormal cardiac septum morphology Camptodactyly Protruding ear Exaggerated startle response Myocardial fibrosis Thoracic hemivertebrae Constipation Hypoplasia of the pyramidal tract Hypothyroidism Retrognathia Hypoglycosylation of alpha-dystroglycan Recurrent infections Low-set ears Polyhydramnios Depressed nasal bridge Hernia Dysphagia Long philtrum Clinodactyly of the 5th finger Anemia Delayed skeletal maturation Webbed neck Camptodactyly of toe Elevated levels of phytanic acid Thick vermilion border CNS hypomyelination Deep philtrum Precocious puberty Myopathic facies Overlapping toe Facial hypotonia Neurodevelopmental delay Micrognathia Short neck Hyperkeratosis Low-set, posteriorly rotated ears Dysmetria High, narrow palate Wide intermamillary distance Cortical visual impairment Low anterior hairline Gynecomastia Heterotopia Phimosis Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Colpocephaly Talipes calcaneovalgus Periventricular gray matter heterotopia Abnormality of the cerebral cortex Nevus Frontal bossing Epileptic encephalopathy Open mouth Polydactyly Patellar dislocation Malar flattening Short chin Truncal obesity Polyphagia Overweight Broad eyebrow Long eyebrows Depressivity Coarse facial features Astigmatism Cerebral calcification Psychosis Abnormality of the musculature Megalencephaly Celiac disease Delayed myelination Cortical tubers Patellar subluxation Adrenal medullary hypoplasia Hyperreflexia Talipes equinovarus Pes cavus Babinski sign Posteriorly rotated ears Muscular hypotonia of the trunk Talipes Bulbous nose Encephalopathy Upslanted palpebral fissure Myoclonus Abnormal heart morphology Umbilical hernia Progressive spinal muscular atrophy Abnormality of epiphysis morphology Anteverted nares Cardiomyopathy Midface retrusion Acidosis Jaundice Facial palsy Retinopathy Respiratory tract infection Nyctalopia Ichthyosis Renal cyst Cirrhosis Convex nasal ridge Large fontanelles Peripheral neuropathy Abnormality of the face Nephrolithiasis Hepatic fibrosis Leukodystrophy Progressive muscle weakness Constriction of peripheral visual field Spinal muscular atrophy Impulsivity Epiphyseal stippling Severe hearing impairment Polar cataract Hypocholesterolemia Very long chain fatty acid accumulation Hyperoxaluria Hepatomegaly Sensorineural hearing impairment Craniosynostosis Delayed cranial suture closure Finger syndactyly Postural instability Postaxial polydactyly Postaxial hand polydactyly Congenital diaphragmatic hernia Confusion Broad thumb Joint contracture of the hand Hand polydactyly Trigonocephaly Preaxial hand polydactyly Broad hallux Hyperglycemia Preaxial polydactyly Partial agenesis of the corpus callosum 1-3 toe syndactyly Large for gestational age Cutaneous finger syndactyly Foot polydactyly Postaxial foot polydactyly Abnormality of digit Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Cutaneous syndactyly of toes Abnormality of muscle fibers Partial duplication of thumb phalanx Metopic synostosis 3-4 finger syndactyly Duplication of the distal phalanx of hand Central hypothyroidism



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