Macrocephaly, and Waddling gait

Diseases related with Macrocephaly and Waddling gait

In the following list you will find some of the most common rare diseases related to Macrocephaly and Waddling gait that can help you solving undiagnosed cases.

Top matches:

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Other less relevant matches:

High match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Top 5 symptoms//phenotypes associated to Macrocephaly and Waddling gait

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Waddling gait. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Depressed nasal bridge Microcephaly Midface retrusion High forehead Muscle weakness Talipes equinovarus Respiratory distress Scoliosis Strabismus Kyphoscoliosis Edema Kyphosis Inability to walk Tetraparesis Growth delay Cardiomyopathy Motor delay Elevated serum creatine phosphokinase Respiratory failure Myopathy Severe short stature Dolichocephaly Flexion contracture High palate Abnormality of the skeletal system Hepatomegaly Tetraplegia Myopia Spasticity Delayed speech and language development Dysarthria Rhizomelia Joint laxity

Rare Symptoms - Less than 30% cases

Dysphagia Fatigue Skeletal muscle atrophy Feeding difficulties Protruding tongue Epiphyseal dysplasia Depressed nasal ridge Abnormality of the cerebral white matter Elevated hepatic transaminase Skeletal dysplasia Hepatosplenomegaly Hydrocephalus Aciduria Osteoporosis Malar flattening Fever Irregular vertebral endplates Ptosis Failure to thrive Short femoral neck Short metatarsal Nail dysplasia Short metacarpal Respiratory insufficiency Areflexia Genu valgum Pes planus Coarse facial features Spastic tetraplegia Intellectual disability, severe Epicanthus Spastic tetraparesis Metaphyseal widening Renal cyst Dilatation Proximal muscle weakness Joint stiffness Hyperlordosis Glaucoma Long face Dilated cardiomyopathy Sleep apnea Accelerated skeletal maturation Decreased liver function Hip dysplasia Generalized muscle weakness Limb muscle weakness Apnea Facial palsy Dyspnea Abnormality of the pinna Short distal phalanx of finger Gait disturbance Spastic paraplegia Hearing impairment Long philtrum Short nose Clinodactyly Anteverted nares Brachydactyly Osteopenia Deeply set eye Low-set ears Paraplegia Neonatal hypotonia Difficulty walking Lumbar hyperlordosis Ataxia Posteriorly rotated ears Hypertelorism Postnatal growth retardation Obesity Downturned corners of mouth Developmental regression Wide mouth Dystonia Mandibular prognathia Hypoplasia of the corpus callosum Telecanthus Hypertrophic cardiomyopathy Ventriculomegaly Defective dehydrogenation of isovaleryl CoA and butyryl CoA Myalgia Hypertonia Absent speech Hypoglycemia Jaundice Arthralgia Babinski sign Respiratory tract infection Lethargy Abnormality of the liver Muscle cramps Wide anterior fontanel Anorexia Left ventricular hypertrophy Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Cardiomegaly Increased serum lactate Gliosis Coma Acetabular dysplasia Metabolic acidosis Hepatic steatosis Pulmonary hypoplasia Lactic acidosis Nausea Joint hyperflexibility Nausea and vomiting Congenital cataract Hyperreflexia Weight loss Wide nasal bridge Acidosis Vomiting Gait ataxia Abnormal heart valve morphology Ovoid vertebral bodies Hypoplastic iliac wing Dysostosis multiplex Obstructive sleep apnea Thoracic kyphosis Hypoplasia of the odontoid process Aseptic necrosis Spinal canal stenosis Metaphyseal irregularity Broad ribs Recurrent upper respiratory tract infections Opacification of the corneal stroma Aortic valve stenosis Thickened skin Decreased body weight Short philtrum Split hand Progressive neurologic deterioration Macroglossia Disproportionate short-trunk short stature Flared iliac wings Arrhythmia Pain Encephalopathy Depressivity Headache Behavioral abnormality Congestive heart failure Diarrhea Clonus Tremor Cataract Anterior wedging of L2 Constrictive median neuropathy Anterior wedging of L1 Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical cord compression Cervical instability Cervical myelopathy Prominent sternum Retinal fold Myelopathy Leukodystrophy Mitochondrial depletion Cardiac arrest Atrial septal defect Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Abnormality of the periventricular white matter Abnormality of blood glucose concentration Genu recurvatum Hypoglycemic coma Loss of ability to walk Febrile seizures Abnormal corpus callosum morphology Intellectual disability, mild Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Hirsutism Exercise-induced myalgia Personality disorder Nonketotic hypoglycemia Organic aciduria Elevated plasma acylcarnitine levels Fatigable weakness of neck muscles Open mouth Fatigable weakness of distal limb muscles Hepatic periportal necrosis Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Electron transfer flavoprotein-ubiquinone oxidoreductase defect Ketotic hypoglycemia Impaired mastication Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Narrow forehead Hypoketotic hypoglycemia Chronic fatigue Type I diabetes mellitus Slurred speech Bulbous nose Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Mildly elevated creatine phosphokinase Hemiplegia Back pain Polycystic kidney dysplasia Difficulty standing Rhabdomyolysis Easy fatigability Poor head control Mutism Abnormality of branched chain family amino acid metabolism Ragged-red muscle fibers Hyperammonemia Pancreatitis Scapular winging Exercise intolerance Glycosuria Congenital muscular dystrophy Excessive daytime somnolence Hyperactivity Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Facial hypotonia Hyporeflexia Attention deficit hyperactivity disorder Gowers sign Muscular dystrophy Poor speech Excessive salivation Ichthyosis Falls Mitral valve prolapse Frequent falls Infantile muscular hypotonia Acute kidney injury Medulloblastoma Micromelia Corneal opacity Low hanging columella Thrombocytopenia Downslanted palpebral fissures Hypoplastic sacrum Frontal balding Clitoral hypoplasia Breast hypoplasia Hypoplastic pelvis Oligospermia Disproportionate short stature Postnatal microcephaly Short finger Agenesis of permanent teeth High pitched voice Cone-shaped epiphysis Relative macrocephaly Widely spaced teeth Azoospermia Pointed chin Gingival overgrowth Growth hormone deficiency Hoarse voice Small nail Cryptorchidism Hepatitis Dental malocclusion Abnormal bleeding Arachnodactyly Lower limb muscle weakness Ophthalmoplegia Paralysis Polyhydramnios Anemia Unexplained fevers Shock Diaphyseal dysplasia Anterior pituitary hypoplasia Toenail dysplasia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Metaphyseal dysplasia Sacral dimple Dental crowding Type II diabetes mellitus Nephrolithiasis Muscular hypotonia of the trunk Broad-based gait Urinary incontinence Delayed myelination Generalized myoclonic seizures Retinal dystrophy Unsteady gait Abnormality of the foot Generalized tonic-clonic seizures Hip dislocation Cerebral atrophy Fasciculations Sensorineural hearing impairment D-2-hydroxyglutaric aciduria Abnormality of dental eruption Cavum septum pellucidum Thoracolumbar scoliosis Thoracic scoliosis Tapered finger Short palm Alopecia Lower limb spasticity Progressive spastic paraplegia Prominent nose Diabetes mellitus Broad nasal tip Triangular face Small hand Carious teeth Severe global developmental delay Small for gestational age Microtia Sparse hair Retrognathia Prominent forehead Overweight Abnormality of the dentition Focal myoclonic seizures Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Exophoria Structural foot deformity Puberty and gonadal disorders Cerebral white matter atrophy Decreased fetal movement Progressive muscle weakness Retinopathy Congenital glaucoma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Protuberant abdomen Cystic hygroma Thoracic hypoplasia Flattened epiphysis Abnormality of the hand Genu varum Disproportionate short-limb short stature Sandal gap Microretrognathia Coxa vara Joint dislocation Coxa valga Horseshoe kidney Open angle glaucoma Hypoplastic vertebral bodies Bowing of the long bones Proximal fibular overgrowth Umbilical hernia Hypothyroidism Inguinal hernia Hernia Splenomegaly Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Multiple carpal ossification centers Vertebral clefting Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Broad thumb Osteoarthritis Narrow face Neonatal respiratory distress Head tremor Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Long fingers Mask-like facies Myotonia Diaphragmatic eventration Ophthalmoparesis Pyloric stenosis Cholelithiasis Atrioventricular block Hemangioma External ophthalmoplegia Severe muscular hypotonia Nephrocalcinosis EMG abnormality Spherocytosis Cavernous hemangioma Wide intermamillary distance Narrow mouth Round face Abdominal distention Flat face Smooth philtrum Narrow chest Platyspondyly Abnormality of the kidney Arthritis Proptosis Immunodeficiency Fractures of the long bones Short neck Intrauterine growth retardation Micrognathia Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Everted upper lip vermilion


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