Global developmental delay, and Sparse hair

Diseases related with Global developmental delay and Sparse hair

In the following list you will find some of the most common rare diseases related to Global developmental delay and Sparse hair that can help you solving undiagnosed cases.

Top matches:

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Other less relevant matches:

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Global developmental delay and Sparse hair

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Sparse hair. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Depressed nasal bridge Cerebellar hypoplasia Hypertonia Poor speech Bulbous nose Ataxia Low-set ears Deeply set eye Fine hair Absent speech Anteverted nares Strabismus Hypertelorism

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Scoliosis Sparse and thin eyebrow Failure to thrive Seizures Muscular hypotonia Intrauterine growth retardation Small for gestational age Talipes equinovarus Osteopenia Dystonia Short nose Hirsutism Frontal bossing High forehead Low anterior hairline Proptosis Neonatal hypotonia Narrow palpebral fissure Upslanted palpebral fissure Downslanted palpebral fissures Hypermetropia Broad nasal tip Intellectual disability, severe Narrow forehead Protruding ear Thick eyebrow Everted lower lip vermilion Highly arched eyebrow Nonprogressive cerebellar ataxia Abnormal cerebellum morphology Cerebellar vermis hypoplasia Limb hypertonia Thick lower lip vermilion Long eyelashes Low-set, posteriorly rotated ears Partial agenesis of the corpus callosum Palpebral edema Congenital microcephaly Aplasia/Hypoplasia of the corpus callosum Anal atresia Posteriorly rotated ears Epileptic encephalopathy Syndactyly Encephalopathy Clinodactyly Mandibular prognathia Muscular hypotonia of the trunk Dysmetria Inability to walk Apraxia Upper eyelid edema Low posterior hairline Oculomotor apraxia Poor head control Abnormality of finger Mild microcephaly Thick hair Anteverted ears Wide nasal bridge Agenesis of corpus callosum Alopecia Midface retrusion Acidosis Anisopoikilocytosis Cataract High palate Feeding difficulties Epicanthus Long philtrum Microphthalmia Lactic acidosis Profound global developmental delay Hepatic failure Metabolic acidosis Delayed myelination Underdeveloped nasal alae Aciduria Postnatal microcephaly Infantile muscular hypotonia Tented upper lip vermilion Spotty hypopigmentation Hypopigmented skin patches Constipation Oral leukoplakia Nail dystrophy Carious teeth Abnormality of skin pigmentation Pancytopenia Intellectual disability, profound Bone marrow hypocellularity CNS hypomyelination Anemia Hypopigmentation of the skin Brachydactyly Motor delay Recurrent infections Severe short stature Pain Telecanthus Talipes Short distal phalanx of finger Hyperactivity Hyperreflexia Thin upper lip vermilion Slender long bone Self-mutilation Tapered finger Dental malocclusion Long palpebral fissure Laryngomalacia Sparse eyebrow Stridor Taurodontia Short neck Hypoplasia of the pons Laryngeal stridor Macrodontia of permanent maxillary central incisor Long fingers Language impairment Cryptorchidism Intellectual disability, mild Fair hair Ventriculomegaly Delayed skeletal maturation Abnormality of the sternum Thick vermilion border Single transverse palmar crease Ectodermal dysplasia Short palpebral fissure Scarring Conjunctivitis Dermal atrophy Aplasia cutis congenita Tics Absent eyelashes Periorbital fullness Distichiasis Multiple rows of eyelashes Absent lower eyelashes Aged leonine appearance Inappropriate laughter Long toe Obesity Hypogonadism Cerebellar atrophy Epiphyseal dysplasia Hip dislocation Platyspondyly Flat face Blue sclerae Decreased body weight Cutis laxa Hyperextensible skin Flared metaphysis Kyphoscoliosis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Blepharophimosis Wide mouth Spasticity Pectus carinatum Short philtrum Broad forehead Astigmatism Premature ovarian insufficiency Thin vermilion border Small hand Short foot Decreased testicular size Specific learning disability Gynecomastia Hypergonadotropic hypogonadism High pitched voice Prominent forehead Truncal obesity Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Cleft palate Pectus excavatum Adducted thumb


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