Rod-cone dystrophy, and Macroglossia

Diseases related with Rod-cone dystrophy and Macroglossia

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Macroglossia that can help you solving undiagnosed cases.


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High match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Medium match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Medium match ZELLWEGER SYNDROME


Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

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Other less relevant matches:

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Medium match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Low match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, classic form|nbia1, classic form|pkan, classic form

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Low match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Macroglossia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Cataract Prominent forehead Seizures Micrognathia Epicanthus Muscular hypotonia Hypertelorism Intellectual disability, severe Microcephaly Short stature Anteverted nares Optic disc pallor Scoliosis Muscle weakness Motor delay Nystagmus Depressed nasal bridge Abnormal facial shape High palate Wide nasal bridge Respiratory insufficiency Hypoplasia of the corpus callosum Sensorineural hearing impairment Visual loss Pneumonia Posteriorly rotated ears Recurrent urinary tract infections Abnormality of the kidney Renal cyst Elevated serum creatine phosphokinase Retinal dystrophy Cardiomyopathy Hepatomegaly Diarrhea Umbilical hernia Pigmentary retinopathy Flexion contracture Attention deficit hyperactivity disorder Visual impairment Cough Macrocephaly

Rare Symptoms - Less than 30% cases


Hyperactivity Feeding difficulties Enlarged cisterna magna Optic atrophy Delayed speech and language development Congenital muscular dystrophy Telecanthus Limb-girdle muscular dystrophy Inability to walk Blindness Cryptorchidism Frequent falls Abnormality of the eye Coloboma Failure to thrive Prominent nasal bridge Dandy-Walker malformation Prominent metopic ridge Wide anterior fontanel Hepatic fibrosis Cholestasis Narrow forehead Bifid uvula Cerebellar vermis hypoplasia Muscular dystrophy Myopathy Distal amyotrophy Heterotopia Falls Toe walking Distal muscle weakness Gait disturbance Tremor Dysarthria Constipation Dilatation Abnormality of the tongue Breech presentation Abnormality of skin pigmentation Protruding tongue Rocker bottom foot Intellectual disability, mild Cerebellar hypoplasia High, narrow palate Pulmonary hypoplasia Malabsorption Hydronephrosis EEG abnormality Agenesis of corpus callosum Hyporeflexia Patent ductus arteriosus Encephalopathy Hypospadias Skeletal muscle atrophy Absent speech Dysphagia Ventricular septal defect Weight loss Areflexia Oral cleft Exercise intolerance Depressivity Hernia Renal insufficiency Frontal bossing Anemia Intestinal pseudo-obstruction Myelopathy Scaphocephaly Intellectual disability, progressive Hoarse voice Polydactyly Delayed eruption of teeth Corneal opacity Retinopathy Apnea Pes cavus Inguinal hernia Kyphosis Congestive heart failure Short neck Ptosis Upslanted palpebral fissure Widely spaced teeth Scarring High forehead Smooth philtrum Skeletal dysplasia Stage 5 chronic kidney disease Craniosynostosis Cleft lip Abnormal heart morphology Abnormality of color vision Calf muscle hypertrophy Sagittal craniosynostosis Cavum septum pellucidum Myotonia Gowers sign Ankyloglossia Dilated fourth ventricle Inspiratory stridor Hypokalemia Ventricular arrhythmia Progressive muscle weakness Specific learning disability Waddling gait Sudden cardiac death Unilateral cleft lip Chest pain Limb muscle weakness Dilated cardiomyopathy Bicornuate uterus Concave nasal ridge Difficulty climbing stairs Chromosome breakage Calf muscle pseudohypertrophy Muscle fiber necrosis Gastroparesis Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Gastrointestinal dysmotility Congenital stationary night blindness Shoulder girdle muscle weakness Limb-girdle muscle weakness Male pseudohermaphroditism Nyctalopia Myoglobinuria Abnormal EKG Hypoventilation Difficulty running Iris coloboma Abnormality of the respiratory system Exertional dyspnea Anosmia Widow's peak Metopic synostosis Dyspnea Respiratory tract infection Episodic tachypnea Occipital myelomeningocele Hemifacial spasm Posterior pharyngeal cleft Pulmonary arterial hypertension Rectourethral fistula Enlarged fossa interpeduncularis Neonatal breathing dysregulation Brainstem dysplasia Dysgenesis of the cerebellar vermis Aspiration Triangular-shaped open mouth Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Meningoencephalocele Abnormal saccadic eye movements Abnormal pattern of respiration Agenesis of cerebellar vermis Breathing dysregulation Central apnea Optic nerve coloboma Coarctation of aorta Pain Hyperlordosis Behavioral abnormality Proximal muscle weakness Hemiatrophy Respiratory failure Recurrent respiratory infections Absent gallbladder Arrhythmia Cranial asymmetry Cerebral atrophy Vesicoureteral reflux Aplasia/Hypoplasia of the cerebellar vermis Rectal atresia Vomiting Hoarse cry Hypoplasia of the epiglottis Cardiac arrest Intestinal malrotation Hypertension Short lingual frenulum Laryngeal cleft Vascular ring Proximal lower limb amyotrophy Nocturnal hypoventilation Bilateral cleft lip and palate Enteroviral dermatomyositis syndrome Oral-pharyngeal dysphagia Hyperreflexia Bifid scrotum Tracheoesophageal fistula Prominent occiput Retinal dysplasia Spasticity Anal atresia Enteroviral hepatitis Lymph node hypoplasia Abnormality of the urinary system Weak cry Prostatitis Limb dystonia Epididymitis Abnormality of the tonsils Abnormality of the ureter Septic arthritis Recurrent cutaneous abscess formation Pyoderma Stridor Recurrent upper respiratory tract infections Anal stenosis Abnormal posturing Dystonia Cerebral cortical atrophy Atrial septal defect Ventriculomegaly Downslanted palpebral fissures Cleft palate Strabismus Iron accumulation in brain Eye of the tiger anomaly of globus pallidus Generalized dystonia Muscle stiffness Aspiration pneumonia Opisthotonus Mask-like facies Increased susceptibility to fractures Micropenis Gastroesophageal reflux Thin upper lip vermilion Conductive hearing impairment Abnormal cardiac septum morphology Laryngomalacia Cleft upper lip Thymoma Abnormality of cardiovascular system morphology Aortic valve stenosis Hepatitis Otitis media Decreased antibody level in blood Sepsis Megalencephaly Neutropenia Skin rash Autoimmunity Arthritis Dementia Chronic diarrhea Alopecia Thrombocytopenia Diastasis recti Recurrent infections Immunodeficiency Fatigue Fever Neoplasm Absent muscle dystrophin expression Red-green dyschromatopsia Abnormal lung morphology Bilateral cleft lip Abnormality of the lymphatic system Rheumatoid arthritis Cor pulmonale Agammaglobulinemia Tracheomalacia Hiatus hernia Glossoptosis Bronchitis Cellulitis Osteomyelitis Chronic otitis media Encephalitis Telangiectasia Recurrent skin infections Hypopigmented skin patches Conjunctivitis Recurrent bacterial infections Hypocalcemia Recurrent pneumonia Meningitis Lymphopenia Skin ulcer Sinusitis Impaired smooth pursuit Distal sensory impairment Self-mutilation Thoracic dysplasia Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Cone-shaped epiphyses of the phalanges of the hand Abnormality of the skeletal system Recurrent lower respiratory tract infections Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Cone-shaped epiphysis Trigonocephaly Cutis laxa Short ribs Absence of renal corticomedullary differentiation Talipes equinovarus Short phalanx of finger Round face Aminoaciduria Multicystic kidney dysplasia Leukodystrophy Decreased liver function Rhizomelia Large fontanelles Hypoplasia of dental enamel Pachygyria Aciduria Premature birth Single transverse palmar crease Malar flattening Polymicrogyria Flat face Hepatic failure Abnormality of the pinna Feeding difficulties in infancy Elevated hepatic transaminase Jaundice Acidosis Glaucoma Delayed skeletal maturation Exotropia Renal dysplasia Opacification of the corneal stroma Asthma Abnormality of retinal pigmentation Split hand Recurrent otitis media Progressive neurologic deterioration Hypertrichosis Tetraparesis Thick lower lip vermilion Intellectual disability, profound Spastic tetraplegia Tetraplegia Spastic tetraparesis Postural instability Neurodegeneration Abnormality of the cerebral white matter Dolichocephaly Hepatosplenomegaly Coarse facial features Osteopenia Severe short stature Splenomegaly Hydrocephalus Elbow flexion contracture Aortic regurgitation Sparse scalp hair Tracheobronchomalacia Microdontia Nephropathy Postaxial polydactyly Short distal phalanx of finger Retinal degeneration Wide mouth Low-set, posteriorly rotated ears Brachydactyly Dermatan sulfate excretion in urine Retinoschisis Cervical cord compression Corneal dystrophy Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Retinal fold Dysostosis multiplex Obstructive sleep apnea Papilledema Abnormal heart valve morphology Mild short stature Incoordination Sleep apnea Nephrocalcinosis Severe muscular hypotonia Occipital encephalocele Skeletal muscle hypertrophy Kinetic tremor Areflexia of lower limbs Excessive daytime somnolence Congenital nystagmus Optic neuropathy Impaired pain sensation Onion bulb formation Macular atrophy Mildly elevated creatine phosphokinase Language impairment Segmental peripheral demyelination/remyelination Progressive hearing impairment Paraparesis Sensorimotor neuropathy Broad-based gait Bilateral sensorineural hearing impairment Progressive visual loss Sensory impairment Polyneuropathy Sensory neuropathy Peripheral axonal neuropathy Abnormal nerve conduction velocity Myopia Lower limb muscle weakness Downturned corners of mouth Molar tooth sign on MRI Hypoplasia of the brainstem Chorioretinal coloboma Tachypnea Oculomotor apraxia Encephalocele Open mouth Apraxia Postaxial hand polydactyly Highly arched eyebrow Long face Respiratory distress Abnormality of eye movement Abnormality of the foot Aggressive behavior Mandibular prognathia Low-set ears Cerebellar dysplasia Generalized amyotrophy Congenital cataract Severe global developmental delay Facial palsy Paresthesia Pallor Reduced tendon reflexes Prolonged neonatal jaundice Abnormality of the helix Thickened nuchal skin fold Bell-shaped thorax Adrenal hypoplasia Posterior embryotoxon External ear malformation Epiphyseal stippling Primary adrenal insufficiency Underdeveloped supraorbital ridges Congenital glaucoma Labial hypoplasia Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Flat occiput Clitoral hypertrophy Cubitus valgus Pyloric stenosis Polycystic kidney dysplasia Abnormal electroretinogram Aplasia/Hypoplasia of the corpus callosum Redundant neck skin Abnormality of the mitochondrion Reduced visual acuity Renal cortical microcysts Cerebellar atrophy Peripheral neuropathy Hypoplastic olfactory lobes Intrahepatic biliary dysgenesis Sudanophilic leukodystrophy Very long chain fatty acid accumulation Elevated long chain fatty acids Subependymal cysts Hyperoxaluria Brushfield spots Albuminuria Profound global developmental delay Abnormal chorioretinal morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Widely patent fontanelles and sutures Glutaric aciduria Intestinal lymphangiectasia Brachyturricephaly Hepatic cysts Tapetoretinal degeneration Ulnar deviation of the hand Absent pulmonary artery



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