Delayed speech and language development, and Hip dysplasia

Diseases related with Delayed speech and language development and Hip dysplasia

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


Top matches:

High match SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM Is also known as ;asct1 deficiency; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO OMIM UMLS

More info about SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

High match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

High match DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

DPYS deficiency is an autosomal recessive inborn error of pyrimidine metabolism. Less than a dozen affected individuals have been reported. About half are asymptomatic, but rare patients with neurologic abnormalities have been reported. It is unclear whether or not these abnormalities are related to the enzymatic defect. Affected individuals theoretically could have severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), although no cases have been reported (Hamajima et al., 1998; van Kuilenburg et al., 2007).See also dihydropyrimidine dehydrogenase deficiency (OMIM ), a similar disorder.

DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD Is also known as dihydropyrimidinuria, dpys deficiency, dph deficiency;dihydropyrimidinase deficiency

Related symptoms:

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


SOURCES: SCTID GARD ORPHANET OMIM MONDO UMLS

More info about DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Related symptoms:

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


SOURCES: UMLS DOID MONDO OMIM GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

High match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

High match 2Q23.1 MICRODELETION SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET

More info about 2Q23.1 MICRODELETION SYNDROME

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 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s

Related symptoms:

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


SOURCES: DOID ORPHANET OMIM MONDO UMLS GARD

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

Medium match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as glycosylphosphatidylinositol biosynthesis defect 12;gpibd12

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Autosomal recessive inheritance Strabismus Anteverted nares Poor speech Absent speech Hyperactivity Ataxia Growth delay Abnormal facial shape Gait ataxia Cerebellar atrophy Motor delay Constipation Optic atrophy Myopia Dystonia Cataract Nystagmus Autosomal dominant inheritance Congenital cataract Cerebral atrophy Stereotypy Inability to walk Hypoplasia of the corpus callosum Delayed myelination

Rare Symptoms - Less than 30% cases


Impulsivity Tapered finger Umbilical hernia Elevated serum creatine phosphokinase Hyperlordosis Frontal bossing Depressed nasal bridge Gastroesophageal reflux Abnormality of the skeletal system High forehead Hernia Respiratory tract infection Infantile onset Muscle weakness Intrauterine growth retardation Difficulty walking Upslanted palpebral fissure Delayed puberty Myopathy Delayed skeletal maturation Short phalanx of finger Scoliosis Muscular hypotonia of the trunk Deeply set eye Brachycephaly Clinodactyly Cryptorchidism Short stature Optic nerve hypoplasia Single transverse palmar crease Esotropia Short nose Micrognathia Sandal gap Generalized seizures Hypertelorism Congenital onset Narrow forehead Apraxia Osteopenia Visual impairment Tremor Dysarthria Abnormality of the cerebral white matter Talipes equinovarus Wide nasal bridge Unsteady gait Exophoria Asymmetric growth Recurrent ear infections Failure to thrive Hearing impairment Speech apraxia Cleft palate Arrhythmia Downslanted palpebral fissures Midface retrusion Recurrent respiratory infections Posteriorly rotated ears Severe short stature Conductive hearing impairment Alacrima Metabolic acidosis Achalasia Muscle cramps Babinski sign Attention deficit hyperactivity disorder Muscular dystrophy Abnormality of the liver Abnormality of movement Carious teeth Hepatic steatosis Chorea Focal seizures Waddling gait Athetosis Microtia Lower limb spasticity Trophic changes related to pain Truncal ataxia Amblyopia CNS hypomyelination Gowers sign Adrenal insufficiency Progressive proximal muscle weakness Esophagitis Limb-girdle muscular dystrophy Hyperreflexia Growth hormone deficiency Small for gestational age Aspiration Abdominal pain Wide mouth Developmental regression Bulbous nose Limb undergrowth Elbow flexion contracture Abnormal lung morphology Knee flexion contracture Elevated alkaline phosphatase Colitis Dilatation 2-3 toe syndactyly Long palpebral fissure Hip contracture Large earlobe Chronic lung disease Thickened helices Enterocolitis Prominent nasal tip Shortening of all distal phalanges of the fingers Echogenic fetal bowel Polyhydramnios Vomiting Thick vermilion border Tracheomalacia Underdeveloped nasal alae Proximal muscle weakness Lumbar hyperlordosis Depressed nasal ridge Microretrognathia Laryngomalacia Short middle phalanx of finger Emphysema Cortical gyral simplification Stenosis of the external auditory canal Inguinal hernia Hypoplastic labia majora Patellar aplasia Entropion Bronchomalacia Subglottic stenosis Tracheobronchomalacia Nasogastric tube feeding Flexion contracture High palate Short neck Myalgia Renal insufficiency Elevated hepatic transaminase Hypermetropia Short chin Pica Status epilepticus Ventriculomegaly Cortical visual impairment Pes cavus Abnormality of the pinna Abnormal cerebellum morphology Dysmetria Autistic behavior Cerebellar vermis hypoplasia Drooling Overlapping toe Facial hypotonia Bruxism Mild microcephaly Happy demeanor Muscular hypotonia Prominent forehead Brisk reflexes Prominent nasal bridge Malar flattening Reduced dihydropyrimidine dehydrogenase activity Cirrhosis Cholestasis Plagiocephaly Excessive daytime somnolence Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Intractable diarrhea Extrapyramidal dyskinesia Short distal phalanx of finger Anxiety Lethargy Anal atresia Abnormal pyramidal sign Feeding difficulties in infancy Acidosis Narrow mouth Diarrhea Dysmetric saccades Thin upper lip vermilion Intellectual disability, severe Clinodactyly of the 5th finger Hyperkeratosis Aciduria Pectus carinatum Spastic tetraplegia Febrile seizures Generalized myoclonic seizures Abnormality of the foot Distal amyotrophy Long face Peripheral axonal neuropathy Increased serum lactate Hypsarrhythmia Absence seizures Abnormality of mitochondrial metabolism Hepatomegaly Pain Irritability Dyskinesia Fatigue Hyporeflexia Cerebral cortical atrophy Hypertrophic cardiomyopathy Mandibular prognathia Osteoporosis Open mouth Coarse facial features Broad forehead Synophrys Short palm Everted lower lip vermilion Highly arched eyebrow Sleep disturbance Hypoplasia of penis Generalized hirsutism Progressive microcephaly Tented upper lip vermilion Self-injurious behavior Polyphagia Macrodontia Paroxysmal bursts of laughter Cognitive impairment Peripheral neuropathy Cardiomyopathy Decreased light- and dark-adapted electroretinogram amplitude EEG with multifocal slow activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Babinski sign, related diseases and genetic alterations Congestive heart failure and Bradykinesia, related diseases and genetic alterations

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