Generalized hypotonia, and Pulmonary hypoplasia

Diseases related with Generalized hypotonia and Pulmonary hypoplasia

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

Top matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Other less relevant matches:

AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

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

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Pulmonary hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Muscle weakness Intellectual disability Patent ductus arteriosus Areflexia Low-set ears Arthrogryposis multiplex congenita Microretrognathia Retrognathia High palate Patent foramen ovale Seizures Hernia Depressed nasal bridge Polydactyly Congenital diaphragmatic hernia Ventricular septal defect Respiratory insufficiency Long philtrum Short ribs

Rare Symptoms - Less than 30% cases

Molar tooth sign on MRI Feeding difficulties Motor delay Oligohydramnios Micropenis Strabismus Ptosis Agenesis of corpus callosum Hydranencephaly Severe global developmental delay Hypertelorism Large fontanelles Hypohidrosis Cerebellar vermis hypoplasia Cleft palate Polymicrogyria Ventriculomegaly Anophthalmia Cryptorchidism Spasticity Growth delay Hydrocephalus Muscular hypotonia Sparse hair Hearing impairment Oral cleft Spinal muscular atrophy Severe muscular hypotonia Decreased fetal movement Premature birth Thoracic dysplasia Peripheral axonal neuropathy Postaxial polydactyly Increased variability in muscle fiber diameter Polyhydramnios Dysphagia Thoracic hypoplasia Prominent forehead Skeletal muscle atrophy Peripheral neuropathy Neonatal respiratory distress Micromelia Cleft lip Narrow chest Multiple prenatal fractures Axonal loss Fractures of the long bones Midface retrusion Diarrhea Aplastic clavicle Short upper lip Microcephaly Hyperreflexia Abnormality of the skeletal system Hyperactivity High forehead Hyperechogenic kidneys Bell-shaped thorax Thin upper lip vermilion Occipital encephalocele Feeding difficulties in infancy Abnormal pattern of respiration Anencephaly Retinal coloboma Syndactyly Cerebellar malformation Short neck Atrial septal defect Edema Hyporeflexia Elongated superior cerebellar peduncle Brachydactyly Upper limb undergrowth Abnormality of the pinna Coloboma Posterior fossa cyst Hydrops fetalis Wide cranial sutures Preaxial polydactyly Single naris Prominent nasal bridge Ambiguous genitalia Malabsorption Pyloric stenosis Hydronephrosis Joint laxity Convex nasal ridge Sloping forehead Recurrent urinary tract infections Sandal gap Cutis laxa Laryngomalacia Emphysema Macrotia Prematurely aged appearance Tracheomalacia Pulmonary artery stenosis Premature skin wrinkling Peripheral pulmonary artery stenosis Bladder diverticulum Periorbital edema Rectal prolapse Umbilical hernia Gastroesophageal reflux Gliosis Lissencephaly Decreased testicular size Specific learning disability Hypoplasia of penis Pachygyria Aganglionic megacolon Postnatal microcephaly Chronic diarrhea Wide anterior fontanel Infantile spasms Inguinal hernia Exocrine pancreatic insufficiency Profound global developmental delay Long upper lip Duane anomaly Abnormality of temperature regulation Temperature instability Type I lissencephaly Malar flattening Dilatation Nephronophthisis Dandy-Walker malformation Hypoplasia of the brainstem Ankle contracture Elbow flexion contracture Knee flexion contracture Scapular winging Poor head control Akinesia Hip contracture Distal arthrogryposis Fetal akinesia sequence Narrow forehead Internally rotated shoulders Cardiomyopathy Congestive heart failure Narrow mouth Abnormal cardiac septum morphology Congenital contracture Generalized amyotrophy Dental crowding Esotropia Muscle fiber atrophy Polyneuropathy Pain Visual impairment Abnormal cortical gyration Hypertension Intrauterine growth retardation Postnatal growth retardation Small for gestational age Peripheral demyelination Protruding ear Renal hypoplasia Renal dysplasia Progressive muscle weakness Elevated serum creatinine Abnormal renal corticomedullary differentiation Talipes equinovarus Camptodactyly Secundum atrial septal defect Diaphragmatic eventration Tachypnea Retinal degeneration Nystagmus Sensorineural hearing impairment Hypoplasia of the corpus callosum Cerebellar hypoplasia Dyspnea Apnea Retinopathy Renal cyst Hypoplastic left atrium Apraxia Dolichocephaly Encephalocele Heterotopia Hepatic fibrosis Decreased liver function Oculomotor apraxia Ataxia Bicornuate uterus Abnormal facial shape Brachycephaly Horizontal ribs Lateral clavicle hook Delayed speech and language development Hypoplastic ilia Prominent occiput Dystonia Microphthalmia Muscular hypotonia of the trunk Spastic tetraparesis Relative macrocephaly Hypoplasia of the radius Wide nose Broad nasal tip Chorea Tetraparesis Short palpebral fissure Short chin Bronchomalacia


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