Generalized hypotonia, and Ambiguous genitalia

Diseases related with Generalized hypotonia and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Ambiguous genitalia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Other less relevant matches:

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Medium match OSTEOCRANIOSTENOSIS

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Medium match CAMPOMELIC DYSPLASIA

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match FILIPPI SYNDROME

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Ambiguous genitalia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Ambiguous genitalia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Micropenis

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Seizures Micrognathia Wide nasal bridge Ventriculomegaly Abnormal facial shape Epicanthus Depressed nasal bridge Growth delay Cleft palate High forehead Motor delay Macrocephaly Hypospadias Prominent forehead Severe short stature Patent ductus arteriosus Pulmonary hypoplasia Oligohydramnios Wide anterior fontanel Muscular hypotonia Spasticity Upslanted palpebral fissure Small for gestational age Intrauterine growth retardation Ventricular septal defect Anteverted nares Polydactyly Hydrocephalus Long philtrum Abnormality of the skeletal system Feeding difficulties in infancy Failure to thrive Hearing impairment Clinodactyly Thin upper lip vermilion

Rare Symptoms - Less than 30% cases

Skeletal dysplasia Brachydactyly Postnatal microcephaly Short philtrum Short nose Muscular hypotonia of the trunk Nystagmus Atrial septal defect Postnatal growth retardation Vesicoureteral reflux Wide nose Abnormal cardiac septum morphology Anteverted ears Renal insufficiency Respiratory insufficiency Scoliosis Sex reversal Abnormal heart morphology Optic atrophy Coarse facial features Progressive microcephaly Short palpebral fissure Apnea Hypogonadism Cerebellar hypoplasia Dystonia Hypertonia Hypoplasia of the corpus callosum Specific learning disability Brachycephaly Gliosis Pterygium Oculomotor apraxia Dandy-Walker malformation Thin ribs Intellectual disability, severe Severe intrauterine growth retardation Proptosis Relative macrocephaly Bowing of the long bones Finger clinodactyly Decreased body weight Delayed skeletal maturation Frontal bossing Feeding difficulties Short neck Disproportionate short-limb short stature Postaxial polydactyly Short chin Hyperreflexia Severe global developmental delay Prominent nasal bridge Agenesis of corpus callosum High palate Recurrent fractures Abnormality of cardiovascular system morphology Tracheobronchomalacia Hypoplasia of olfactory tract Polyhydramnios Gonadal dysgenesis Hypoplastic cervical vertebrae Small abnormally formed scapulae Cystic hygroma Bilateral talipes equinovarus Kyphosis Absent sternal ossification Laryngotracheomalacia Hypoplastic inferior ilia Shortening of all phalanges of fingers Anterior tibial bowing Respiratory distress Poorly ossified cervical vertebrae Shortening of all phalanges of the toes Tibial bowing Neoplasm Cataract Malar flattening Immunodeficiency Kyphoscoliosis Bowing of the legs Conductive hearing impairment Laryngomalacia Depressed nasal ridge Fibular hypoplasia Short long bone Webbed neck Flat face Tracheomalacia Glossoptosis Talipes Shallow orbits Narrow chest Hip dislocation Male pseudohermaphroditism Blepharophimosis Multicystic kidney dysplasia Pierre-Robin sequence Hypoplastic iliac wing Hypoplastic scapulae 11 pairs of ribs Small face Thoracic hypoplasia Skin dimples Narrow iliac wings Neonatal short-limb short stature Abnormality of the sense of smell Abnormal external genitalia Hydronephrosis Femoral bowing Triangular mouth Midface retrusion Fine hair Mutism Widely spaced teeth Cutaneous syndactyly Generalized hirsutism Bilateral single transverse palmar creases Long eyelashes Hypertrichosis Small nail Supernumerary nipple Microdontia Underdeveloped nasal alae Limitation of joint mobility Hypodontia Single transverse palmar crease Hirsutism Thick eyebrow Short middle phalanx of finger Dysphasia Thin vermilion border Broad columella Frontal hirsutism Enlarged epiphyses Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Congenital microcephaly Cutaneous syndactyly of toes Echolalia Aphasia High anterior hairline Low hanging columella Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Abnormality of digit Narrow nasal bridge Bulbous nose Smooth philtrum Posteriorly rotated ears Sarcoma Multiple renal cysts Acute lymphoblastic leukemia Combined immunodeficiency Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Hyperpigmentation of the skin Mild microcephaly Primary amenorrhea Intellectual disability, profound Amenorrhea Generalized myoclonic seizures Renal cyst Generalized tonic-clonic seizures Muscular dystrophy Leukemia Acute leukemia Short sternum Paraplegia Clinodactyly of the 5th finger Toe syndactyly Synophrys Finger syndactyly Neurological speech impairment Broad forehead Sparse hair Intellectual disability, moderate Syndactyly Rhabdomyosarcoma Cerebellar atrophy Downslanted palpebral fissures Visual impairment Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Hypoplastic spleen Talipes equinovarus Flat acetabular roof Overtubulated long bones Type I lissencephaly Irritability Macrotia Myoclonus Absent speech Cerebral atrophy Muscle weakness Temperature instability Abnormality of the cerebral white matter Abnormality of temperature regulation Duane anomaly Long upper lip Hydranencephaly Profound global developmental delay Exocrine pancreatic insufficiency Spastic paraplegia Chorea Lissencephaly Flat occiput Strabismus Olivopontocerebellar hypoplasia Microphallus Thick upper lip vermilion Hypoplasia of the pons Nevus flammeus Hypoplasia of the brainstem Nevus Clitoral hypertrophy Prominent supraorbital ridges Hypergonadotropic hypogonadism Fasciculations Esotropia Delayed myelination Infantile spasms Hypohidrosis Dilatation Ataxia Sloping forehead Postaxial hand polydactyly Retinal dystrophy Retinopathy Inguinal hernia Sensorineural hearing impairment Penoscrotal hypospadias Apraxia Unilateral cryptorchidism Melanocytic nevus Triangular face Small hand Retrognathia Flexion contracture Congenital diaphragmatic hernia Tall stature Chronic diarrhea Hyperactivity Aganglionic megacolon Pachygyria Hypoplasia of penis Decreased testicular size Malabsorption Respiratory failure Diarrhea Aplasia/Hypoplasia of the corpus callosum Abnormality of the clavicle Nephronophthisis Molar tooth sign on MRI Prominent occiput Aplasia/Hypoplasia of the cerebellum Triphalangeal thumb Delayed speech and language development Autism Thin clavicles Osteopenia Limb undergrowth Abdominal distention Ascites Polymicrogyria Micromelia Craniosynostosis Pneumonia Cardiac arrest Microphthalmia Gait imbalance Short clavicles Anteriorly placed anus Neurodevelopmental delay Short femoral neck Decreased fetal movement Hypocalcemia Trigonocephaly Asplenia Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Decreased skull ossification Short hallux Radial bowing Growth abnormality Aniridia Slender long bone Hypokinesia Flared metaphysis Hyperostosis Redundant skin Cupped ear Arnold-Chiari malformation Abnormality of the nervous system Renal hypoplasia Spina bifida occulta Horseshoe kidney Spina bifida Narrow face Recurrent urinary tract infections Renal dysplasia Renal agenesis Chronic kidney disease Long face Stage 5 chronic kidney disease Poor speech Microtia Autistic behavior Abnormality of the kidney Abnormality of the urinary system Deep philtrum Wormian bones Ptosis Omphalocele Coarctation of aorta Tetralogy of Fallot Postural instability Tapered finger Astigmatism Decreased numbers of nephrons Ectopic kidney Bifid ureter Urethral valve Hypoplastic helices Uterus didelphys Hyperechogenic kidneys Thickened helices Poor eye contact 2-4 toe syndactyly


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